Canonical Allele Identifier: CA2586967701
Gene: SERPINC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903937del , CM000663.2:g.173903937del GRCh38
NC_000001.10:g.173873075del , CM000663.1:g.173873075del GRCh37
NC_000001.9:g.172139698del NCBI36
NG_012462.1:g.18442del , LRG_577:g.18442del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1347del MANE Select ENSP00000356671.3:p.Asn450ThrfsTer9
ENST00000367698.3:c.1347del ENSP00000356671.3:p.Asn450ThrfsTer9
ENST00000617423.4:c.732del ENSP00000478688.1:p.Asn245ThrfsTer9
NM_000488.3:c.1347del , LRG_577t1:c.1347del NP_000479.1:p.Asn450ThrfsTer9
XM_005245198.2:c.1203del XP_005245255.1:p.Asn402ThrfsTer9
NM_001365052.1:c.1203del NP_001351981.1:p.Asn402ThrfsTer9
NM_000488.4:c.1347del MANE Select NP_000479.1:p.Asn450ThrfsTer9
NM_001365052.2:c.1203del NP_001351981.1:p.Asn402ThrfsTer9
NM_001386302.1:c.1470del NP_001373231.1:p.Asn491ThrfsTer9
NM_001386303.1:c.1428del NP_001373232.1:p.Asn477ThrfsTer9
NM_001386304.1:c.1326del NP_001373233.1:p.Asn443ThrfsTer9
NM_001386305.1:c.1290del NP_001373234.1:p.Asn431ThrfsTer9
NM_001386306.1:c.1131del NP_001373235.1:p.Asn378ThrfsTer9