Canonical Allele Identifier: CA658795216
Gene: SERPINC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903951_173903952del , CM000663.2:g.173903951_173903952del GRCh38
NC_000001.10:g.173873089_173873090del , CM000663.1:g.173873089_173873090del GRCh37
NC_000001.9:g.172139712_172139713del NCBI36
NG_012462.1:g.18427_18428del , LRG_577:g.18427_18428del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1332_1333del MANE Select ENSP00000356671.3:p.Ile444MetfsTer20
ENST00000367698.3:c.1332_1333del ENSP00000356671.3:p.Ile444MetfsTer20
ENST00000617423.4:c.717_718del ENSP00000478688.1:p.Ile239MetfsTer20
NM_000488.3:c.1332_1333del , LRG_577t1:c.1332_1333del NP_000479.1:p.Ile444MetfsTer20
XM_005245198.2:c.1188_1189del XP_005245255.1:p.Ile396MetfsTer20
NM_001365052.1:c.1188_1189del NP_001351981.1:p.Ile396MetfsTer20
NM_000488.4:c.1332_1333del MANE Select NP_000479.1:p.Ile444MetfsTer20
NM_001365052.2:c.1188_1189del NP_001351981.1:p.Ile396MetfsTer20
NM_001386302.1:c.1455_1456del NP_001373231.1:p.Ile485MetfsTer20
NM_001386303.1:c.1413_1414del NP_001373232.1:p.Ile471MetfsTer20
NM_001386304.1:c.1311_1312del NP_001373233.1:p.Ile437MetfsTer20
NM_001386305.1:c.1275_1276del NP_001373234.1:p.Ile425MetfsTer20
NM_001386306.1:c.1116_1117del NP_001373235.1:p.Ile372MetfsTer20