Canonical Allele Identifier: CA2573953230
Gene: SERPINC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909697del , CM000663.2:g.173909697del GRCh38
NC_000001.10:g.173878835del , CM000663.1:g.173878835del GRCh37
NC_000001.9:g.172145458del NCBI36
NG_012462.1:g.12682del , LRG_577:g.12682del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1008del MANE Select ENSP00000356671.3:p.Gln337LysfsTer10
ENST00000367698.3:c.1008del ENSP00000356671.3:p.Gln337LysfsTer10
ENST00000617423.4:c.559+2167del ENSP00000478688.1:n.559+2167del
NM_000488.3:c.1008del , LRG_577t1:c.1008del NP_000479.1:p.Gln337LysfsTer10
XM_005245198.2:c.864del XP_005245255.1:p.Gln289LysfsTer10
NM_001365052.1:c.864del NP_001351981.1:p.Gln289LysfsTer10
NM_000488.4:c.1008del MANE Select NP_000479.1:p.Gln337LysfsTer10
NM_001365052.2:c.864del NP_001351981.1:p.Gln289LysfsTer10
NM_001386302.1:c.1131del NP_001373231.1:p.Gln378LysfsTer10
NM_001386303.1:c.1089del NP_001373232.1:p.Gln364LysfsTer10
NM_001386304.1:c.987del NP_001373233.1:p.Gln330LysfsTer10
NM_001386305.1:c.951del NP_001373234.1:p.Gln318LysfsTer10
NM_001386306.1:c.792del NP_001373235.1:p.Gln265LysfsTer10