Canonical Allele Identifier: CA915943669
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 627145
ClinVar RCV Id: RCV000851895
dbSNP Id: rs1572088775
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909875del , CM000663.2:g.173909875del GRCh38
NC_000001.10:g.173879013del , CM000663.1:g.173879013del GRCh37
NC_000001.9:g.172145636del NCBI36
NG_012462.1:g.12504del , LRG_577:g.12504del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.830del MANE Select ENSP00000356671.3:p.Glu277GlyfsTer7
ENST00000367698.3:c.830del ENSP00000356671.3:p.Glu277GlyfsTer7
ENST00000487183.1:n.481del
ENST00000617423.4:c.559+1989del ENSP00000478688.1:n.559+1989del
NM_000488.3:c.830del , LRG_577t1:c.830del NP_000479.1:p.Glu277GlyfsTer7
XM_005245198.2:c.686del XP_005245255.1:p.Glu229GlyfsTer7
NM_001365052.1:c.686del NP_001351981.1:p.Glu229GlyfsTer7
NM_000488.4:c.830del MANE Select NP_000479.1:p.Glu277GlyfsTer7
NM_001365052.2:c.686del NP_001351981.1:p.Glu229GlyfsTer7
NM_001386302.1:c.953del NP_001373231.1:p.Glu318GlyfsTer7
NM_001386303.1:c.911del NP_001373232.1:p.Glu304GlyfsTer7
NM_001386304.1:c.809del NP_001373233.1:p.Glu270GlyfsTer7
NM_001386305.1:c.773del NP_001373234.1:p.Glu258GlyfsTer7
NM_001386306.1:c.614del NP_001373235.1:p.Glu205GlyfsTer7
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