Canonical Allele Identifier: CA1008229033

Gene: SPTA1

Linked Data

• dbSNP Id: rs796759062
• gnomAD v3: 1-158612707-GAA-G
• gnomAD v4: 1-158612707-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612717_158612718del , CM000663.2:g.158612717_158612718del	GRCh38
NC_000001.10:g.158582507_158582508del , CM000663.1:g.158582507_158582508del	GRCh37
NC_000001.9:g.156849131_156849132del	NCBI36
NG_011474.1:g.79008_79009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+108_7134+109del MANE Select	ENSP00000495214.1:n.7134+108_7134+109del
ENST00000368147.8:c.7134+108_7134+109del	ENSP00000357129.4:n.7134+108_7134+109del
ENST00000614909.4:c.7134+108_7134+109del	ENSP00000482595.1:n.7134+108_7134+109del
NM_003126.2:c.7134+108_7134+109del	NP_003117.2:n.7134+108_7134+109del
XM_011509916.1:c.7134+108_7134+109del	XP_011508218.1:n.7134+108_7134+109del
XM_011509917.1:c.7116+108_7116+109del	XP_011508219.1:n.7116+108_7116+109del
NM_003126.3:c.7134+108_7134+109del	NP_003117.2:n.7134+108_7134+109del
XM_011509916.2:c.7134+108_7134+109del	XP_011508218.1:n.7134+108_7134+109del
XM_011509917.3:c.7116+108_7116+109del	XP_011508219.1:n.7116+108_7116+109del
NM_003126.4:c.7134+108_7134+109del MANE Select	NP_003117.2:n.7134+108_7134+109del