Canonical Allele Identifier: CA2586964404

Gene: SERPINC1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909713del , CM000663.2:g.173909713del	GRCh38
NC_000001.10:g.173878851del , CM000663.1:g.173878851del	GRCh37
NC_000001.9:g.172145474del	NCBI36
NG_012462.1:g.12666del , LRG_577:g.12666del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.992del MANE Select	ENSP00000356671.3:p.Leu331ProfsTer16
ENST00000367698.3:c.992del	ENSP00000356671.3:p.Leu331ProfsTer16
ENST00000617423.4:c.559+2151del	ENSP00000478688.1:n.559+2151del
NM_000488.3:c.992del , LRG_577t1:c.992del	NP_000479.1:p.Leu331ProfsTer16
XM_005245198.2:c.848del	XP_005245255.1:p.Leu283ProfsTer16
NM_001365052.1:c.848del	NP_001351981.1:p.Leu283ProfsTer16
NM_000488.4:c.992del MANE Select	NP_000479.1:p.Leu331ProfsTer16
NM_001365052.2:c.848del	NP_001351981.1:p.Leu283ProfsTer16
NM_001386302.1:c.1115del	NP_001373231.1:p.Leu372ProfsTer16
NM_001386303.1:c.1073del	NP_001373232.1:p.Leu358ProfsTer16
NM_001386304.1:c.971del	NP_001373233.1:p.Leu324ProfsTer16
NM_001386305.1:c.935del	NP_001373234.1:p.Leu312ProfsTer16
NM_001386306.1:c.776del	NP_001373235.1:p.Leu259ProfsTer16