Canonical Allele Identifier: CA526676468

Gene: SPTA1

Linked Data

• dbSNP Id: rs1302161567
• gnomAD v2: 1-158655073-TC-T
• gnomAD v3: 1-158685283-TC-T
• gnomAD v4: 1-158685283-TC-T
• MyVariant Identifiers: chr1:g.158655074del (hg19) ; chr1:g.158685284del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685285del , CM000663.2:g.158685285del	GRCh38
NC_000001.10:g.158655075del , CM000663.1:g.158655075del	GRCh37
NC_000001.9:g.156921699del	NCBI36
NG_011474.1:g.6433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.88del MANE Select	ENSP00000495214.1:p.Glu30LysfsTer3
ENST00000368147.8:c.88del	ENSP00000357129.4:p.Glu30LysfsTer3
ENST00000467387.1:c.88del	ENSP00000476485.1:p.Glu30LysfsTer3
ENST00000614909.4:c.88del	ENSP00000482595.1:p.Glu30LysfsTer3
NM_003126.2:c.88del	NP_003117.2:p.Glu30LysfsTer3
XM_011509916.1:c.88del	XP_011508218.1:p.Glu30LysfsTer3
XM_011509917.1:c.88del	XP_011508219.1:p.Glu30LysfsTer3
XM_011509918.1:c.88del	XP_011508220.1:p.Glu30LysfsTer3
XM_011509919.1:c.88del	XP_011508221.1:p.Glu30LysfsTer3
XR_921911.1:n.201del
XR_921912.1:n.206del
NM_003126.3:c.88del	NP_003117.2:p.Glu30LysfsTer3
XM_011509916.2:c.88del	XP_011508218.1:p.Glu30LysfsTer3
XM_011509917.3:c.88del	XP_011508219.1:p.Glu30LysfsTer3
XM_011509918.3:c.88del	XP_011508220.1:p.Glu30LysfsTer3
XM_011509919.3:c.88del	XP_011508221.1:p.Glu30LysfsTer3
XR_921911.3:n.214del
XR_921912.2:n.216del
NM_003126.4:c.88del MANE Select	NP_003117.2:p.Glu30LysfsTer3