Canonical Allele Identifier: CA1139771046
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 961679
ClinVar RCV Id: RCV001235412
dbSNP Id: rs1657694750
ERepo: CA1139771046/MONDO:0013144/084
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909877_173909878del , CM000663.2:g.173909877_173909878del GRCh38
NC_000001.10:g.173879015_173879016del , CM000663.1:g.173879015_173879016del GRCh37
NC_000001.9:g.172145638_172145639del NCBI36
NG_012462.1:g.12504_12505del , LRG_577:g.12504_12505del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.830_831del MANE Select ENSP00000356671.3:p.Glu277ValfsTer20
ENST00000367698.3:c.830_831del ENSP00000356671.3:p.Glu277ValfsTer20
ENST00000487183.1:n.481_482del
ENST00000617423.4:c.559+1989_559+1990del ENSP00000478688.1:n.559+1989_559+1990del
NM_000488.3:c.830_831del , LRG_577t1:c.830_831del NP_000479.1:p.Glu277ValfsTer20
XM_005245198.2:c.686_687del XP_005245255.1:p.Glu229ValfsTer20
NM_001365052.1:c.686_687del NP_001351981.1:p.Glu229ValfsTer20
NM_000488.4:c.830_831del MANE Select NP_000479.1:p.Glu277ValfsTer20
NM_001365052.2:c.686_687del NP_001351981.1:p.Glu229ValfsTer20
NM_001386302.1:c.953_954del NP_001373231.1:p.Glu318ValfsTer20
NM_001386303.1:c.911_912del NP_001373232.1:p.Glu304ValfsTer20
NM_001386304.1:c.809_810del NP_001373233.1:p.Glu270ValfsTer20
NM_001386305.1:c.773_774del NP_001373234.1:p.Glu258ValfsTer20
NM_001386306.1:c.614_615del NP_001373235.1:p.Glu205ValfsTer20
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