Canonical Allele Identifier: CA31250412

Gene: SPTA1

Linked Data

• dbSNP Id: rs796759062
• gnomAD v2: 1-158582497-G-GA
• gnomAD v3: 1-158612707-G-GA
• gnomAD v4: 1-158612707-G-GA
• COSMIC: COSN20122670
• MyVariant Identifiers: chr1:g.158582498_158582499insA (hg19) ; chr1:g.158582497_158582498insA (hg19) ; chr1:g.158612708_158612709insA (hg38) ; chr1:g.158612707_158612708insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612718dup , CM000663.2:g.158612718dup	GRCh38
NC_000001.10:g.158582508dup , CM000663.1:g.158582508dup	GRCh37
NC_000001.9:g.156849132dup	NCBI36
NG_011474.1:g.79009dup

Transcript Alleles

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