别名

C.442_449DEL,THR148HISFSX9,RS587776811
Allele Registry ID:CA248627
ClinVar ID:14470

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
213625291336252920GCTGCGGT
Transcript
ENST00000300305.3

基因序列

NM_001754.4:c.442_449delACCGCAGC
NP_001745.2:p.Thr148Hisfs
NC_000021.8:g.36252913_36252920del
ENST00000300305.3:c.442_449delACCGCAGC