Canonical Allele Identifier: CA1184129

Gene: SPTA1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158681595_158681597dup , CM000663.2:g.158681595_158681597dup	GRCh38
NC_000001.10:g.158651385_158651387dup , CM000663.1:g.158651385_158651387dup	GRCh37
NC_000001.9:g.156918009_156918011dup	NCBI36
NG_011474.1:g.10123_10125dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.464_466dup MANE Select	ENSP00000495214.1:p.Leu155_Arg156insLeu
ENST00000368147.8:c.464_466dup	ENSP00000357129.4:p.Leu155_Arg156insLeu
ENST00000467387.1:c.133-3060_133-3058dup	ENSP00000476485.1:n.133-3060_133-3058dup
ENST00000614909.4:c.464_466dup	ENSP00000482595.1:p.Leu155_Arg156insLeu
NM_003126.2:c.464_466dup	NP_003117.2:p.Leu155_Arg156insLeu
XM_011509916.1:c.464_466dup	XP_011508218.1:p.Leu155_Arg156insLeu
XM_011509917.1:c.464_466dup	XP_011508219.1:p.Leu155_Arg156insLeu
XM_011509918.1:c.464_466dup	XP_011508220.1:p.Leu155_Arg156insLeu
XM_011509919.1:c.464_466dup	XP_011508221.1:p.Leu155_Arg156insLeu
XR_921911.1:n.577_579dup
XR_921912.1:n.582_584dup
NM_003126.3:c.464_466dup	NP_003117.2:p.Leu155_Arg156insLeu
XM_011509916.2:c.464_466dup	XP_011508218.1:p.Leu155_Arg156insLeu
XM_011509917.3:c.464_466dup	XP_011508219.1:p.Leu155_Arg156insLeu
XM_011509918.3:c.464_466dup	XP_011508220.1:p.Leu155_Arg156insLeu
XM_011509919.3:c.464_466dup	XP_011508221.1:p.Leu155_Arg156insLeu
XR_921911.3:n.590_592dup
XR_921912.2:n.592_594dup
NM_003126.4:c.464_466dup MANE Select	NP_003117.2:p.Leu155_Arg156insLeu