Canonical Allele Identifier: CA526546877

Gene: SPTA1

Linked Data

• dbSNP Id: rs1557917473
• gnomAD v2: 1-158582781-CT-C
• gnomAD v4: 1-158612991-CT-C
• MyVariant Identifiers: chr1:g.158582782del (hg19) ; chr1:g.158612992del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612993del , CM000663.2:g.158612993del	GRCh38
NC_000001.10:g.158582783del , CM000663.1:g.158582783del	GRCh37
NC_000001.9:g.156849407del	NCBI36
NG_011474.1:g.78725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6990-31del MANE Select	ENSP00000495214.1:n.6990-31del
ENST00000368147.8:c.6990-31del	ENSP00000357129.4:n.6990-31del
ENST00000481212.5:n.431-31del
ENST00000498708.1:n.422-31del
ENST00000614909.4:c.6990-31del	ENSP00000482595.1:n.6990-31del
NM_003126.2:c.6990-31del	NP_003117.2:n.6990-31del
XM_011509916.1:c.6990-31del	XP_011508218.1:n.6990-31del
XM_011509917.1:c.6972-31del	XP_011508219.1:n.6972-31del
NM_003126.3:c.6990-31del	NP_003117.2:n.6990-31del
XM_011509916.2:c.6990-31del	XP_011508218.1:n.6990-31del
XM_011509917.3:c.6972-31del	XP_011508219.1:n.6972-31del
NM_003126.4:c.6990-31del MANE Select	NP_003117.2:n.6990-31del