Canonical Allele Identifier: CA1201536836

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612693_158612694delinsGA , CM000663.2:g.158612693_158612694delinsGA	GRCh38
NC_000001.10:g.158582483_158582484delinsGA , CM000663.1:g.158582483_158582484delinsGA	GRCh37
NC_000001.9:g.156849107_156849108delinsGA	NCBI36
NG_011474.1:g.79023_79024delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+123_7134+124delinsTC MANE Select	ENSP00000495214.1:n.7134+123_7134+124delinsTC
ENST00000368147.8:c.7134+123_7134+124delinsTC	ENSP00000357129.4:n.7134+123_7134+124delinsTC
ENST00000614909.4:c.7134+123_7134+124delinsTC	ENSP00000482595.1:n.7134+123_7134+124delinsTC
NM_003126.2:c.7134+123_7134+124delinsTC	NP_003117.2:n.7134+123_7134+124delinsTC
XM_011509916.1:c.7134+123_7134+124delinsTC	XP_011508218.1:n.7134+123_7134+124delinsTC
XM_011509917.1:c.7116+123_7116+124delinsTC	XP_011508219.1:n.7116+123_7116+124delinsTC
NM_003126.3:c.7134+123_7134+124delinsTC	NP_003117.2:n.7134+123_7134+124delinsTC
XM_011509916.2:c.7134+123_7134+124delinsTC	XP_011508218.1:n.7134+123_7134+124delinsTC
XM_011509917.3:c.7116+123_7116+124delinsTC	XP_011508219.1:n.7116+123_7116+124delinsTC
NM_003126.4:c.7134+123_7134+124delinsTC MANE Select	NP_003117.2:n.7134+123_7134+124delinsTC