Canonical Allele Identifier: CA2586967703
Gene: SERPINC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903948_173903954del , CM000663.2:g.173903948_173903954del GRCh38
NC_000001.10:g.173873086_173873092del , CM000663.1:g.173873086_173873092del GRCh37
NC_000001.9:g.172139709_172139715del NCBI36
NG_012462.1:g.18426_18432del , LRG_577:g.18426_18432del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1331_1337del MANE Select ENSP00000356671.3:p.Ile444LysfsTer4
ENST00000367698.3:c.1331_1337del ENSP00000356671.3:p.Ile444LysfsTer4
ENST00000617423.4:c.716_722del ENSP00000478688.1:p.Ile239LysfsTer4
NM_000488.3:c.1331_1337del , LRG_577t1:c.1331_1337del NP_000479.1:p.Ile444LysfsTer4
XM_005245198.2:c.1187_1193del XP_005245255.1:p.Ile396LysfsTer4
NM_001365052.1:c.1187_1193del NP_001351981.1:p.Ile396LysfsTer4
NM_000488.4:c.1331_1337del MANE Select NP_000479.1:p.Ile444LysfsTer4
NM_001365052.2:c.1187_1193del NP_001351981.1:p.Ile396LysfsTer4
NM_001386302.1:c.1454_1460del NP_001373231.1:p.Ile485LysfsTer4
NM_001386303.1:c.1412_1418del NP_001373232.1:p.Ile471LysfsTer4
NM_001386304.1:c.1310_1316del NP_001373233.1:p.Ile437LysfsTer4
NM_001386305.1:c.1274_1280del NP_001373234.1:p.Ile425LysfsTer4
NM_001386306.1:c.1115_1121del NP_001373235.1:p.Ile372LysfsTer4