Canonical Allele Identifier: CA2582342983
Gene: SERPINC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909865del , CM000663.2:g.173909865del GRCh38
NC_000001.10:g.173879003del , CM000663.1:g.173879003del GRCh37
NC_000001.9:g.172145626del NCBI36
NG_012462.1:g.12514del , LRG_577:g.12514del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.840del MANE Select ENSP00000356671.3:p.Ala281HisfsTer3
ENST00000367698.3:c.840del ENSP00000356671.3:p.Ala281HisfsTer3
ENST00000487183.1:n.491del
ENST00000617423.4:c.559+1999del ENSP00000478688.1:n.559+1999del
NM_000488.3:c.840del , LRG_577t1:c.840del NP_000479.1:p.Ala281HisfsTer3
XM_005245198.2:c.696del XP_005245255.1:p.Ala233HisfsTer3
NM_001365052.1:c.696del NP_001351981.1:p.Ala233HisfsTer3
NM_000488.4:c.840del MANE Select NP_000479.1:p.Ala281HisfsTer3
NM_001365052.2:c.696del NP_001351981.1:p.Ala233HisfsTer3
NM_001386302.1:c.963del NP_001373231.1:p.Ala322HisfsTer3
NM_001386303.1:c.921del NP_001373232.1:p.Ala308HisfsTer3
NM_001386304.1:c.819del NP_001373233.1:p.Ala274HisfsTer3
NM_001386305.1:c.783del NP_001373234.1:p.Ala262HisfsTer3
NM_001386306.1:c.624del NP_001373235.1:p.Ala209HisfsTer3