Canonical Allele Identifier: CA2738746319

Gene: ATRX

Linked Data

• dbSNP Id: rs2148656555

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77688855del , CM000685.2:g.77688855del	GRCh38
NC_000023.10:g.76944348del , CM000685.1:g.76944348del	GRCh37
NC_000023.9:g.76831004del	NCBI36
NG_008838.2:g.102369del
NG_008838.3:g.102417del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.559del MANE Select	ENSP00000362441.4:p.Tyr187IlefsTer19
ENST00000373344.9:c.559del	ENSP00000362441.4:p.Tyr187IlefsTer19
ENST00000395603.7:c.445del	ENSP00000378967.3:p.Tyr149IlefsTer19
ENST00000480283.5:c.*187del	ENSP00000480196.1:n.*187del
ENST00000623321.3:c.394del	ENSP00000485127.1:p.Tyr132IlefsTer19
ENST00000624032.3:c.559del	ENSP00000485253.1:p.Tyr187IlefsTer19
ENST00000624166.3:c.442del	ENSP00000485103.1:p.Tyr148IlefsTer19
ENST00000624668.3:c.280del	ENSP00000485100.1:p.Tyr94IlefsTer?
ENST00000625063.3:c.374del
NM_000489.4:c.559del	NP_000480.3:p.Tyr187IlefsTer19
NM_138270.3:c.445del	NP_612114.2:p.Tyr149IlefsTer19
XM_005262153.3:c.556del	XP_005262210.2:p.Tyr186IlefsTer19
XM_005262154.3:c.559del	XP_005262211.2:p.Tyr187IlefsTer19
XM_005262155.3:c.442del	XP_005262212.2:p.Tyr148IlefsTer19
XM_005262156.3:c.394del	XP_005262213.2:p.Tyr132IlefsTer19
XM_005262157.3:c.442del	XP_005262214.2:p.Tyr148IlefsTer19
XM_006724666.2:c.442del	XP_006724729.1:p.Tyr148IlefsTer19
XM_006724667.2:c.280del	XP_006724730.1:p.Tyr94IlefsTer19
XM_006724668.2:c.559del	XP_006724731.1:p.Tyr187IlefsTer19
XR_938400.1:n.827del
NM_000489.5:c.559del	NP_000480.3:p.Tyr187IlefsTer19
XM_005262153.5:c.556del	XP_005262210.2:p.Tyr186IlefsTer19
XM_005262154.5:c.559del	XP_005262211.2:p.Tyr187IlefsTer19
XM_005262155.4:c.442del	XP_005262212.2:p.Tyr148IlefsTer19
XM_005262156.4:c.394del	XP_005262213.2:p.Tyr132IlefsTer19
XM_005262157.5:c.442del	XP_005262214.2:p.Tyr148IlefsTer19
XM_006724666.4:c.442del	XP_006724729.1:p.Tyr148IlefsTer19
XM_006724667.3:c.280del	XP_006724730.1:p.Tyr94IlefsTer19
XM_006724668.3:c.559del	XP_006724731.1:p.Tyr187IlefsTer19
XM_017029601.2:c.556del	XP_016885090.1:p.Tyr186IlefsTer19
XM_017029602.1:c.439del	XP_016885091.1:p.Tyr147IlefsTer19
XM_017029603.1:c.391del	XP_016885092.1:p.Tyr131IlefsTer19
XM_017029604.2:c.445del	XP_016885093.1:p.Tyr149IlefsTer19
XM_017029605.1:c.442del	XP_016885094.1:p.Tyr148IlefsTer19
XM_017029606.2:c.328del	XP_016885095.1:p.Tyr110IlefsTer19
XM_017029607.2:c.325del	XP_016885096.1:p.Tyr109IlefsTer19
XM_017029608.2:c.277del	XP_016885097.1:p.Tyr93IlefsTer19
XM_017029609.1:c.328del	XP_016885098.1:p.Tyr110IlefsTer19
XM_017029610.1:c.325del	XP_016885099.1:p.Tyr109IlefsTer19
XM_017029611.1:c.280del	XP_016885100.1:p.Tyr94IlefsTer19
XR_001755700.2:n.784del
NM_138270.4:c.445del	NP_612114.2:p.Tyr149IlefsTer19
NM_000489.6:c.559del MANE Select	NP_000480.3:p.Tyr187IlefsTer19
NM_138270.5:c.445del	NP_612114.2:p.Tyr149IlefsTer19