Canonical Allele Identifier: CA2579753960
Gene: SERPINC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903924del , CM000663.2:g.173903924del GRCh38
NC_000001.10:g.173873062del , CM000663.1:g.173873062del GRCh37
NC_000001.9:g.172139685del NCBI36
NG_012462.1:g.18456del , LRG_577:g.18456del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1361del MANE Select ENSP00000356671.3:p.Phe454SerfsTer5
ENST00000367698.3:c.1361del ENSP00000356671.3:p.Phe454SerfsTer5
ENST00000617423.4:c.746del ENSP00000478688.1:p.Phe249SerfsTer5
NM_000488.3:c.1361del , LRG_577t1:c.1361del NP_000479.1:p.Phe454SerfsTer5
XM_005245198.2:c.1217del XP_005245255.1:p.Phe406SerfsTer5
NM_001365052.1:c.1217del NP_001351981.1:p.Phe406SerfsTer5
NM_000488.4:c.1361del MANE Select NP_000479.1:p.Phe454SerfsTer5
NM_001365052.2:c.1217del NP_001351981.1:p.Phe406SerfsTer5
NM_001386302.1:c.1484del NP_001373231.1:p.Phe495SerfsTer5
NM_001386303.1:c.1442del NP_001373232.1:p.Phe481SerfsTer5
NM_001386304.1:c.1340del NP_001373233.1:p.Phe447SerfsTer5
NM_001386305.1:c.1304del NP_001373234.1:p.Phe435SerfsTer5
NM_001386306.1:c.1145del NP_001373235.1:p.Phe382SerfsTer5