别名

RS121913234,KPMYEVQWK550-558DEL
Allele Registry ID:CA123524
ClinVar ID:13857

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
45559358255593608AAACCCATGTATGAAGTACAGTGGAAG
Transcript
ENST00000288135.5

基因序列

NM_000222.2:c.1648_1674del27
NP_000213.1:p.Lys550_Lys558del
NC_000004.11:g.55593582_55593608del27
ENST00000288135.5:c.1648_1674del27