Canonical Allele Identifier: CA2519557092

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685130dup , CM000663.2:g.158685130dup	GRCh38
NC_000001.10:g.158654920dup , CM000663.1:g.158654920dup	GRCh37
NC_000001.9:g.156921544dup	NCBI36
NG_011474.1:g.6587dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.242dup MANE Select	ENSP00000495214.1:p.Tyr81Ter
ENST00000368147.8:c.242dup	ENSP00000357129.4:p.Tyr81Ter
ENST00000467387.1:c.132+110dup	ENSP00000476485.1:n.132+110dup
ENST00000614909.4:c.242dup	ENSP00000482595.1:p.Tyr81Ter
NM_003126.2:c.242dup	NP_003117.2:p.Tyr81Ter
XM_011509916.1:c.242dup	XP_011508218.1:p.Tyr81Ter
XM_011509917.1:c.242dup	XP_011508219.1:p.Tyr81Ter
XM_011509918.1:c.242dup	XP_011508220.1:p.Tyr81Ter
XM_011509919.1:c.242dup	XP_011508221.1:p.Tyr81Ter
XR_921911.1:n.355dup
XR_921912.1:n.360dup
NM_003126.3:c.242dup	NP_003117.2:p.Tyr81Ter
XM_011509916.2:c.242dup	XP_011508218.1:p.Tyr81Ter
XM_011509917.3:c.242dup	XP_011508219.1:p.Tyr81Ter
XM_011509918.3:c.242dup	XP_011508220.1:p.Tyr81Ter
XM_011509919.3:c.242dup	XP_011508221.1:p.Tyr81Ter
XR_921911.3:n.368dup
XR_921912.2:n.370dup
NM_003126.4:c.242dup MANE Select	NP_003117.2:p.Tyr81Ter