Canonical Allele Identifier: CA2648555381

Gene: SPTA1

Linked Data

• gnomAD v4: 1-158612567-A-AAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612567_158612568insAT , CM000663.2:g.158612567_158612568insAT	GRCh38
NC_000001.10:g.158582357_158582358insAT , CM000663.1:g.158582357_158582358insAT	GRCh37
NC_000001.9:g.156848981_156848982insAT	NCBI36
NG_011474.1:g.79149_79150insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+249_7134+250insAT MANE Select	ENSP00000495214.1:n.7134+249_7134+250insAT
ENST00000368147.8:c.7134+249_7134+250insAT	ENSP00000357129.4:n.7134+249_7134+250insAT
ENST00000614909.4:c.7134+249_7134+250insAT	ENSP00000482595.1:n.7134+249_7134+250insAT
NM_003126.2:c.7134+249_7134+250insAT	NP_003117.2:n.7134+249_7134+250insAT
XM_011509916.1:c.7134+249_7134+250insAT	XP_011508218.1:n.7134+249_7134+250insAT
XM_011509917.1:c.7116+249_7116+250insAT	XP_011508219.1:n.7116+249_7116+250insAT
NM_003126.3:c.7134+249_7134+250insAT	NP_003117.2:n.7134+249_7134+250insAT
XM_011509916.2:c.7134+249_7134+250insAT	XP_011508218.1:n.7134+249_7134+250insAT
XM_011509917.3:c.7116+249_7116+250insAT	XP_011508219.1:n.7116+249_7116+250insAT
NM_003126.4:c.7134+249_7134+250insAT MANE Select	NP_003117.2:n.7134+249_7134+250insAT