Canonical Allele Identifier: CA2586964453
Gene: SERPINC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173914914del , CM000663.2:g.173914914del GRCh38
NC_000001.10:g.173884052del , CM000663.1:g.173884052del GRCh37
NC_000001.9:g.172150675del NCBI36
NG_012462.1:g.7467del , LRG_577:g.7467del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.49del MANE Select ENSP00000356671.3:p.Tyr17IlefsTer14
ENST00000367698.3:c.49del ENSP00000356671.3:p.Tyr17IlefsTer14
ENST00000494024.1:n.275del
ENST00000617423.4:c.49del ENSP00000478688.1:p.Tyr17IlefsTer14
NM_000488.3:c.49del , LRG_577t1:c.49del NP_000479.1:p.Tyr17IlefsTer14
XM_005245198.2:c.-96del XP_005245255.1:n.-96del
NM_001365052.1:c.-96del NP_001351981.1:n.-96del
NM_000488.4:c.49del MANE Select NP_000479.1:p.Tyr17IlefsTer14
NM_001365052.2:c.-96del NP_001351981.1:n.-96del
NM_001386302.1:c.49del NP_001373231.1:p.Tyr17IlefsTer14
NM_001386303.1:c.130del NP_001373232.1:p.Tyr44IlefsTer14
NM_001386304.1:c.49del NP_001373233.1:p.Tyr17IlefsTer14
NM_001386305.1:c.49del NP_001373234.1:p.Tyr17IlefsTer14
NM_001386306.1:c.49del NP_001373235.1:p.Tyr17IlefsTer14