Canonical Allele Identifier: CA915943672
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 645305
ClinVar RCV Id: RCV000799362
dbSNP Id: rs1572088865
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909940del , CM000663.2:g.173909940del GRCh38
NC_000001.10:g.173879078del , CM000663.1:g.173879078del GRCh37
NC_000001.9:g.172145701del NCBI36
NG_012462.1:g.12440del , LRG_577:g.12440del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.766del MANE Select ENSP00000356671.3:p.Leu256CysfsTer28
ENST00000367698.3:c.766del ENSP00000356671.3:p.Leu256CysfsTer28
ENST00000487183.1:n.417del
ENST00000617423.4:c.559+1925del ENSP00000478688.1:n.559+1925del
NM_000488.3:c.766del , LRG_577t1:c.766del NP_000479.1:p.Leu256CysfsTer28
XM_005245198.2:c.622del XP_005245255.1:p.Leu208CysfsTer28
NM_001365052.1:c.622del NP_001351981.1:p.Leu208CysfsTer28
NM_000488.4:c.766del MANE Select NP_000479.1:p.Leu256CysfsTer28
NM_001365052.2:c.622del NP_001351981.1:p.Leu208CysfsTer28
NM_001386302.1:c.889del NP_001373231.1:p.Leu297CysfsTer28
NM_001386303.1:c.847del NP_001373232.1:p.Leu283CysfsTer28
NM_001386304.1:c.745del NP_001373233.1:p.Leu249CysfsTer28
NM_001386305.1:c.763-54del NP_001373234.1:n.763-54del
NM_001386306.1:c.550del NP_001373235.1:p.Leu184CysfsTer28
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