Canonical Allele Identifier: CA2586963972
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2627769
ClinVar RCV Id: RCV003389113

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173914643_173914695del , CM000663.2:g.173914643_173914695del GRCh38
NC_000001.10:g.173883781_173883833del , CM000663.1:g.173883781_173883833del GRCh37
NC_000001.9:g.172150404_172150456del NCBI36
NG_012462.1:g.7684_7736del , LRG_577:g.7684_7736del

Transcript Alleles

HGVS Amino-acid change
ENST00000367698.4:c.266_318del MANE Select ENSP00000356671.3:p.Arg89GlnfsTer22
ENST00000367698.3:c.266_318del ENSP00000356671.3:p.Arg89GlnfsTer22
ENST00000494024.1:n.492_544del
ENST00000617423.4:c.266_318del ENSP00000478688.1:p.Arg89GlnfsTer22
NM_000488.3:c.266_318del , LRG_577t1:c.266_318del NP_000479.1:p.Arg89GlnfsTer22
XM_005245198.2:c.122_174del XP_005245255.1:p.Arg41GlnfsTer22
NM_001365052.1:c.122_174del NP_001351981.1:p.Arg41GlnfsTer22
NM_000488.4:c.266_318del MANE Select NP_000479.1:p.Arg89GlnfsTer22
NM_001365052.2:c.122_174del NP_001351981.1:p.Arg41GlnfsTer22
NM_001386302.1:c.266_318del NP_001373231.1:p.Arg89GlnfsTer22
NM_001386303.1:c.347_399del NP_001373232.1:p.Arg116GlnfsTer22
NM_001386304.1:c.266_318del NP_001373233.1:p.Arg89GlnfsTer22
NM_001386305.1:c.266_318del NP_001373234.1:p.Arg89GlnfsTer22
NM_001386306.1:c.266_318del NP_001373235.1:p.Arg89GlnfsTer22