Canonical Allele Identifier: CA31250345

Gene: SPTA1

Linked Data

• dbSNP Id: rs34729637
• gnomAD v2: 1-158582347-G-GAA
• gnomAD v3: 1-158612557-G-GAA
• gnomAD v4: 1-158612557-G-GAA
• MyVariant Identifiers: chr1:g.158582347_158582348insAA (hg19) ; chr1:g.158612557_158612558insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612566_158612567dup , CM000663.2:g.158612566_158612567dup	GRCh38
NC_000001.10:g.158582356_158582357dup , CM000663.1:g.158582356_158582357dup	GRCh37
NC_000001.9:g.156848980_156848981dup	NCBI36
NG_011474.1:g.79158_79159dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+258_7134+259dup MANE Select	ENSP00000495214.1:n.7134+258_7134+259dup
ENST00000368147.8:c.7134+258_7134+259dup	ENSP00000357129.4:n.7134+258_7134+259dup
ENST00000614909.4:c.7134+258_7134+259dup	ENSP00000482595.1:n.7134+258_7134+259dup
NM_003126.2:c.7134+258_7134+259dup	NP_003117.2:n.7134+258_7134+259dup
XM_011509916.1:c.7134+258_7134+259dup	XP_011508218.1:n.7134+258_7134+259dup
XM_011509917.1:c.7116+258_7116+259dup	XP_011508219.1:n.7116+258_7116+259dup
NM_003126.3:c.7134+258_7134+259dup	NP_003117.2:n.7134+258_7134+259dup
XM_011509916.2:c.7134+258_7134+259dup	XP_011508218.1:n.7134+258_7134+259dup
XM_011509917.3:c.7116+258_7116+259dup	XP_011508219.1:n.7116+258_7116+259dup
NM_003126.4:c.7134+258_7134+259dup MANE Select	NP_003117.2:n.7134+258_7134+259dup