Canonical Allele Identifier: CA337494
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216071
ClinVar RCV Id: RCV000197842
dbSNP Id: rs863224495

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909648del , CM000663.2:g.173909648del GRCh38
NC_000001.10:g.173878786del , CM000663.1:g.173878786del GRCh37
NC_000001.9:g.172145409del NCBI36
NG_012462.1:g.12734del , LRG_577:g.12734del

Transcript Alleles

HGVS Amino-acid change
ENST00000367698.4:c.1060del MANE Select ENSP00000356671.3:p.Arg354AlafsTer10
ENST00000367698.3:c.1060del ENSP00000356671.3:p.Arg354AlafsTer10
ENST00000617423.4:c.560-2152del ENSP00000478688.1:p.=
NM_000488.3:c.1060del , LRG_577t1:c.1060del NP_000479.1:p.Arg354AlafsTer10
XM_005245198.2:c.916del XP_005245255.1:p.Arg306AlafsTer10
NM_001365052.1:c.916del NP_001351981.1:p.Arg306AlafsTer10
NM_000488.4:c.1060del MANE Select NP_000479.1:p.Arg354AlafsTer10
NM_001365052.2:c.916del NP_001351981.1:p.Arg306AlafsTer10
NM_001386302.1:c.1183del NP_001373231.1:p.Arg395AlafsTer10
NM_001386303.1:c.1141del NP_001373232.1:p.Arg381AlafsTer10
NM_001386304.1:c.1039del NP_001373233.1:p.Arg347AlafsTer10
NM_001386305.1:c.1003del NP_001373234.1:p.Arg335AlafsTer10
NM_001386306.1:c.844del NP_001373235.1:p.Arg282AlafsTer10