Canonical Allele Identifier: CA889966873

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 2683220
• ClinVar RCV Id: RCV003482087
• dbSNP Id: rs1289506712
• gnomAD v4: 1-158685198-GA-G
• MyVariant Identifiers: chr1:g.158654989del (hg19) ; chr1:g.158685199del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685202del , CM000663.2:g.158685202del	GRCh38
NC_000001.10:g.158654992del , CM000663.1:g.158654992del	GRCh37
NC_000001.9:g.156921616del	NCBI36
NG_011474.1:g.6518del

Transcript Alleles

HGVS	Amino-acid change
ENST00000643759.2:c.173del MANE Select	ENSP00000495214.1:p.Phe58SerfsTer19
ENST00000368147.8:c.173del	ENSP00000357129.4:p.Phe58SerfsTer19
ENST00000467387.1:c.132+41del	ENSP00000476485.1:n.132+41del
ENST00000614909.4:c.173del	ENSP00000482595.1:p.Phe58SerfsTer19
NM_003126.2:c.173del	NP_003117.2:p.Phe58SerfsTer19
XM_011509916.1:c.173del	XP_011508218.1:p.Phe58SerfsTer19
XM_011509917.1:c.173del	XP_011508219.1:p.Phe58SerfsTer19
XM_011509918.1:c.173del	XP_011508220.1:p.Phe58SerfsTer19
XM_011509919.1:c.173del	XP_011508221.1:p.Phe58SerfsTer19
XR_921911.1:n.286del
XR_921912.1:n.291del
NM_003126.3:c.173del	NP_003117.2:p.Phe58SerfsTer19
XM_011509916.2:c.173del	XP_011508218.1:p.Phe58SerfsTer19
XM_011509917.3:c.173del	XP_011508219.1:p.Phe58SerfsTer19
XM_011509918.3:c.173del	XP_011508220.1:p.Phe58SerfsTer19
XM_011509919.3:c.173del	XP_011508221.1:p.Phe58SerfsTer19
XR_921911.3:n.299del
XR_921912.2:n.301del
NM_003126.4:c.173del MANE Select	NP_003117.2:p.Phe58SerfsTer19