Canonical Allele Identifier: CA2580061383
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1687103
ClinVar RCV Id: RCV002463182

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173904037dup , CM000663.2:g.173904037dup GRCh38
NC_000001.10:g.173873175dup , CM000663.1:g.173873175dup GRCh37
NC_000001.9:g.172139798dup NCBI36
NG_012462.1:g.18342dup , LRG_577:g.18342dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1247dup MANE Select ENSP00000356671.3:p.Ser417LysfsTer?
ENST00000367698.3:c.1247dup ENSP00000356671.3:p.Ser417LysfsTer?
ENST00000617423.4:c.632dup ENSP00000478688.1:p.Ser212LysfsTer?
NM_000488.3:c.1247dup , LRG_577t1:c.1247dup NP_000479.1:p.Ser417LysfsTer?
XM_005245198.2:c.1103dup XP_005245255.1:p.Ser369LysfsTer?
NM_001365052.1:c.1103dup NP_001351981.1:p.Ser369LysfsTer?
NM_000488.4:c.1247dup MANE Select NP_000479.1:p.Ser417LysfsTer?
NM_001365052.2:c.1103dup NP_001351981.1:p.Ser369LysfsTer?
NM_001386302.1:c.1370dup NP_001373231.1:p.Ser458LysfsTer?
NM_001386303.1:c.1328dup NP_001373232.1:p.Ser444LysfsTer?
NM_001386304.1:c.1226dup NP_001373233.1:p.Ser410LysfsTer?
NM_001386305.1:c.1190dup NP_001373234.1:p.Ser398LysfsTer?
NM_001386306.1:c.1031dup NP_001373235.1:p.Ser345LysfsTer?