Canonical Allele Identifier: CA2648555572

Gene: SPTA1

Linked Data

• gnomAD v4: 1-158612706-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612706_158612707insA , CM000663.2:g.158612706_158612707insA	GRCh38
NC_000001.10:g.158582496_158582497insA , CM000663.1:g.158582496_158582497insA	GRCh37
NC_000001.9:g.156849120_156849121insA	NCBI36
NG_011474.1:g.79010_79011insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+110_7134+111insT MANE Select	ENSP00000495214.1:n.7134+110_7134+111insT
ENST00000368147.8:c.7134+110_7134+111insT	ENSP00000357129.4:n.7134+110_7134+111insT
ENST00000614909.4:c.7134+110_7134+111insT	ENSP00000482595.1:n.7134+110_7134+111insT
NM_003126.2:c.7134+110_7134+111insT	NP_003117.2:n.7134+110_7134+111insT
XM_011509916.1:c.7134+110_7134+111insT	XP_011508218.1:n.7134+110_7134+111insT
XM_011509917.1:c.7116+110_7116+111insT	XP_011508219.1:n.7116+110_7116+111insT
NM_003126.3:c.7134+110_7134+111insT	NP_003117.2:n.7134+110_7134+111insT
XM_011509916.2:c.7134+110_7134+111insT	XP_011508218.1:n.7134+110_7134+111insT
XM_011509917.3:c.7116+110_7116+111insT	XP_011508219.1:n.7116+110_7116+111insT
NM_003126.4:c.7134+110_7134+111insT MANE Select	NP_003117.2:n.7134+110_7134+111insT