Canonical Allele Identifier: CA1008229116

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 2436331
• ClinVar RCV Id: RCV003138668
• dbSNP Id: rs1649341758
• gnomAD v3: 1-158612826-GTCT-G
• gnomAD v4: 1-158612826-GTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612831_158612833del , CM000663.2:g.158612831_158612833del	GRCh38
NC_000001.10:g.158582621_158582623del , CM000663.1:g.158582621_158582623del	GRCh37
NC_000001.9:g.156849245_156849247del	NCBI36
NG_011474.1:g.78888_78890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7122_7124del MANE Select	ENSP00000495214.1:p.Glu2374del
ENST00000368147.8:c.7122_7124del	ENSP00000357129.4:p.Glu2374del
ENST00000481212.5:n.563_565del
ENST00000498708.1:n.554_556del
ENST00000614909.4:c.7122_7124del	ENSP00000482595.1:p.Glu2374del
NM_003126.2:c.7122_7124del	NP_003117.2:p.Glu2374del
XM_011509916.1:c.7122_7124del	XP_011508218.1:p.Glu2374del
XM_011509917.1:c.7104_7106del	XP_011508219.1:p.Glu2368del
NM_003126.3:c.7122_7124del	NP_003117.2:p.Glu2374del
XM_011509916.2:c.7122_7124del	XP_011508218.1:p.Glu2374del
XM_011509917.3:c.7104_7106del	XP_011508219.1:p.Glu2368del
NM_003126.4:c.7122_7124del MANE Select	NP_003117.2:p.Glu2374del