Canonical Allele Identifier: CA2586964401
Gene: SERPINC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909558del , CM000663.2:g.173909558del GRCh38
NC_000001.10:g.173878696del , CM000663.1:g.173878696del GRCh37
NC_000001.9:g.172145319del NCBI36
NG_012462.1:g.12821del , LRG_577:g.12821del

Transcript Alleles

HGVS Amino-acid change
ENST00000367698.4:c.1147del MANE Select ENSP00000356671.3:p.Leu383SerfsTer25
ENST00000367698.3:c.1147del ENSP00000356671.3:p.Leu383SerfsTer25
ENST00000617423.4:c.560-2065del ENSP00000478688.1:n.560-2065del
NM_000488.3:c.1147del , LRG_577t1:c.1147del NP_000479.1:p.Leu383SerfsTer25
XM_005245198.2:c.1003del XP_005245255.1:p.Leu335SerfsTer25
NM_001365052.1:c.1003del NP_001351981.1:p.Leu335SerfsTer25
NM_000488.4:c.1147del MANE Select NP_000479.1:p.Leu383SerfsTer25
NM_001365052.2:c.1003del NP_001351981.1:p.Leu335SerfsTer25
NM_001386302.1:c.1270del NP_001373231.1:p.Leu424SerfsTer25
NM_001386303.1:c.1228del NP_001373232.1:p.Leu410SerfsTer25
NM_001386304.1:c.1126del NP_001373233.1:p.Leu376SerfsTer25
NM_001386305.1:c.1090del NP_001373234.1:p.Leu364SerfsTer25
NM_001386306.1:c.931del NP_001373235.1:p.Leu311SerfsTer25