Canonical Allele Identifier: CA210774
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18027
ClinVar RCV Id: RCV000019643
dbSNP Id: rs121909560

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909739_173909740del , CM000663.2:g.173909739_173909740del GRCh38
NC_000001.10:g.173878877_173878878del , CM000663.1:g.173878877_173878878del GRCh37
NC_000001.9:g.172145500_172145501del NCBI36
NG_012462.1:g.12641_12642del , LRG_577:g.12641_12642del

Transcript Alleles

HGVS Amino-acid change
ENST00000367698.4:c.967_968del MANE Select ENSP00000356671.3:p.Ser323ProfsTer19
ENST00000367698.3:c.967_968del ENSP00000356671.3:p.Ser323ProfsTer19
ENST00000487183.1:n.618_619del
ENST00000617423.4:c.559+2126_559+2127del ENSP00000478688.1:p.=
NM_000488.3:c.967_968del , LRG_577t1:c.967_968del NP_000479.1:p.Ser323ProfsTer19
XM_005245198.2:c.823_824del XP_005245255.1:p.Ser275ProfsTer19
NM_001365052.1:c.823_824del NP_001351981.1:p.Ser275ProfsTer19
NM_000488.4:c.967_968del MANE Select NP_000479.1:p.Ser323ProfsTer19
NM_001365052.2:c.823_824del NP_001351981.1:p.Ser275ProfsTer19
NM_001386302.1:c.1090_1091del NP_001373231.1:p.Ser364ProfsTer19
NM_001386303.1:c.1048_1049del NP_001373232.1:p.Ser350ProfsTer19
NM_001386304.1:c.946_947del NP_001373233.1:p.Ser316ProfsTer19
NM_001386305.1:c.910_911del NP_001373234.1:p.Ser304ProfsTer19
NM_001386306.1:c.751_752del NP_001373235.1:p.Ser251ProfsTer19