Canonical Allele Identifier: CA10457804

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1526344
• ClinVar RCV Id: RCV002052362 ; RCV002331656 ; RCV002550513
• dbSNP Id: rs782410402
• ExAC: X:76907817 TTCC / T
• gnomAD v2: X-76907817-TTCC-T
• gnomAD v3: X-77652327-TTCC-T
• gnomAD v4: X-77652327-TTCC-T
• MyVariant Identifiers: chrX:g.76907818_76907820del (hg19) ; chrX:g.77652328_77652330del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652333_77652335del , CM000685.2:g.77652333_77652335del	GRCh38
NC_000023.10:g.76907823_76907825del , CM000685.1:g.76907823_76907825del	GRCh37
NC_000023.9:g.76794479_76794481del	NCBI36
NG_008838.2:g.138892_138894del
NG_008838.3:g.138940_138942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4341_4343del MANE Select	ENSP00000362441.4:p.Glu1448del
ENST00000373344.9:c.4341_4343del	ENSP00000362441.4:p.Glu1448del
ENST00000395603.7:c.4227_4229del	ENSP00000378967.3:p.Glu1410del
ENST00000480283.5:c.*3969_*3971del	ENSP00000480196.1:n.*3969_*3971del
NM_000489.4:c.4341_4343del	NP_000480.3:p.Glu1448del
NM_138270.3:c.4227_4229del	NP_612114.2:p.Glu1410del
XM_005262153.3:c.4338_4340del	XP_005262210.2:p.Glu1447del
XM_005262154.3:c.4254_4256del	XP_005262211.2:p.Glu1419del
XM_005262155.3:c.4224_4226del	XP_005262212.2:p.Glu1409del
XM_005262156.3:c.4176_4178del	XP_005262213.2:p.Glu1393del
XM_005262157.3:c.4137_4139del	XP_005262214.2:p.Glu1380del
XM_006724666.2:c.4224_4226del	XP_006724729.1:p.Glu1409del
XM_006724667.2:c.4062_4064del	XP_006724730.1:p.Glu1355del
XM_006724668.2:c.4341_4343del	XP_006724731.1:p.Glu1448del
XR_938400.1:n.4609_4611del
NM_000489.5:c.4341_4343del	NP_000480.3:p.Glu1448del
XM_005262153.5:c.4338_4340del	XP_005262210.2:p.Glu1447del
XM_005262154.5:c.4254_4256del	XP_005262211.2:p.Glu1419del
XM_005262155.4:c.4224_4226del	XP_005262212.2:p.Glu1409del
XM_005262156.4:c.4176_4178del	XP_005262213.2:p.Glu1393del
XM_005262157.5:c.4137_4139del	XP_005262214.2:p.Glu1380del
XM_006724666.4:c.4224_4226del	XP_006724729.1:p.Glu1409del
XM_006724667.3:c.4062_4064del	XP_006724730.1:p.Glu1355del
XM_006724668.3:c.4341_4343del	XP_006724731.1:p.Glu1448del
XM_017029601.2:c.4251_4253del	XP_016885090.1:p.Glu1418del
XM_017029602.1:c.4221_4223del	XP_016885091.1:p.Glu1408del
XM_017029603.1:c.4173_4175del	XP_016885092.1:p.Glu1392del
XM_017029604.2:c.4140_4142del	XP_016885093.1:p.Glu1381del
XM_017029605.1:c.4137_4139del	XP_016885094.1:p.Glu1380del
XM_017029606.2:c.4110_4112del	XP_016885095.1:p.Glu1371del
XM_017029607.2:c.4107_4109del	XP_016885096.1:p.Glu1370del
XM_017029608.2:c.4059_4061del	XP_016885097.1:p.Glu1354del
XM_017029609.1:c.4023_4025del	XP_016885098.1:p.Glu1342del
XM_017029610.1:c.4020_4022del	XP_016885099.1:p.Glu1341del
XM_017029611.1:c.3975_3977del	XP_016885100.1:p.Glu1326del
XR_001755700.2:n.4566_4568del
NM_138270.4:c.4227_4229del	NP_612114.2:p.Glu1410del
NM_000489.6:c.4341_4343del MANE Select	NP_000480.3:p.Glu1448del
NM_138270.5:c.4227_4229del	NP_612114.2:p.Glu1410del