Canonical Allele Identifier: CA2586964406
Gene: SERPINC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909784_173909888del , CM000663.2:g.173909784_173909888del GRCh38
NC_000001.10:g.173878922_173879026del , CM000663.1:g.173878922_173879026del GRCh37
NC_000001.9:g.172145545_172145649del NCBI36
NG_012462.1:g.12491_12595del , LRG_577:g.12491_12595del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.817_921del MANE Select ENSP00000356671.3:p.Lys273_Lys307del
ENST00000367698.3:c.817_921del ENSP00000356671.3:p.Lys273_Lys307del
ENST00000487183.1:n.468_572del
ENST00000617423.4:c.559+1976_559+2080del ENSP00000478688.1:n.559+1976_559+2080del
NM_000488.3:c.817_921del , LRG_577t1:c.817_921del NP_000479.1:p.Lys273_Lys307del
XM_005245198.2:c.673_777del XP_005245255.1:p.Lys225_Lys259del
NM_001365052.1:c.673_777del NP_001351981.1:p.Lys225_Lys259del
NM_000488.4:c.817_921del MANE Select NP_000479.1:p.Lys273_Lys307del
NM_001365052.2:c.673_777del NP_001351981.1:p.Lys225_Lys259del
NM_001386302.1:c.940_1044del NP_001373231.1:p.Lys314_Lys348del
NM_001386303.1:c.898_1002del NP_001373232.1:p.Lys300_Lys334del
NM_001386304.1:c.796_900del NP_001373233.1:p.Lys266_Lys300del
NM_001386305.1:c.763-3_864del
NM_001386306.1:c.601_705del NP_001373235.1:p.Lys201_Lys235del