Canonical Allele Identifier: CA2586967710
Gene: SERPINC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173904020del , CM000663.2:g.173904020del GRCh38
NC_000001.10:g.173873158del , CM000663.1:g.173873158del GRCh37
NC_000001.9:g.172139781del NCBI36
NG_012462.1:g.18359del , LRG_577:g.18359del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1264del MANE Select ENSP00000356671.3:p.Ile422LeufsTer6
ENST00000367698.3:c.1264del ENSP00000356671.3:p.Ile422LeufsTer6
ENST00000617423.4:c.649del ENSP00000478688.1:p.Ile217LeufsTer6
NM_000488.3:c.1264del , LRG_577t1:c.1264del NP_000479.1:p.Ile422LeufsTer6
XM_005245198.2:c.1120del XP_005245255.1:p.Ile374LeufsTer6
NM_001365052.1:c.1120del NP_001351981.1:p.Ile374LeufsTer6
NM_000488.4:c.1264del MANE Select NP_000479.1:p.Ile422LeufsTer6
NM_001365052.2:c.1120del NP_001351981.1:p.Ile374LeufsTer6
NM_001386302.1:c.1387del NP_001373231.1:p.Ile463LeufsTer6
NM_001386303.1:c.1345del NP_001373232.1:p.Ile449LeufsTer6
NM_001386304.1:c.1243del NP_001373233.1:p.Ile415LeufsTer6
NM_001386305.1:c.1207del NP_001373234.1:p.Ile403LeufsTer6
NM_001386306.1:c.1048del NP_001373235.1:p.Ile350LeufsTer6