Canonical Allele Identifier: CA175123

Gene: ATRX

Linked Data

• ClinVar Variation Id: 93137
• ClinVar RCV Id: RCV000150063 ; RCV000640852 ; RCV001355369 ; RCV001252425 ; RCV002311563 ; RCV004537321
• dbSNP Id: rs398123423
• ExAC: X:76907781 TTCC / T
• gnomAD v2: X-76907781-TTCC-T
• gnomAD v3: X-77652291-TTCC-T
• gnomAD v4: X-77652291-TTCC-T
• COSMIC: COSM4589545 ; COSM4589546
• MyVariant Identifiers: chrX:g.76907785_76907787del (hg19) ; chrX:g.76907782_76907784del (hg19) ; chrX:g.76907782_76907784delTCC (hg19) ; chrX:g.77652293_77652295del (hg38) ; chrX:g.77652292_77652294del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652306_77652308del , CM000685.2:g.77652306_77652308del	GRCh38
NC_000023.10:g.76907796_76907798del , CM000685.1:g.76907796_76907798del	GRCh37
NC_000023.9:g.76794452_76794454del	NCBI36
NG_008838.2:g.138928_138930del
NG_008838.3:g.138976_138978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4377_4379del MANE Select	ENSP00000362441.4:p.Glu1460del
ENST00000373344.9:c.4377_4379del	ENSP00000362441.4:p.Glu1460del
ENST00000395603.7:c.4263_4265del	ENSP00000378967.3:p.Glu1422del
ENST00000480283.5:c.*4005_*4007del	ENSP00000480196.1:n.*4005_*4007del
NM_000489.4:c.4377_4379del	NP_000480.3:p.Glu1460del
NM_138270.3:c.4263_4265del	NP_612114.2:p.Glu1422del
XM_005262153.3:c.4374_4376del	XP_005262210.2:p.Glu1459del
XM_005262154.3:c.4290_4292del	XP_005262211.2:p.Glu1431del
XM_005262155.3:c.4260_4262del	XP_005262212.2:p.Glu1421del
XM_005262156.3:c.4212_4214del	XP_005262213.2:p.Glu1405del
XM_005262157.3:c.4173_4175del	XP_005262214.2:p.Glu1392del
XM_006724666.2:c.4260_4262del	XP_006724729.1:p.Glu1421del
XM_006724667.2:c.4098_4100del	XP_006724730.1:p.Glu1367del
XM_006724668.2:c.4377_4379del	XP_006724731.1:p.Glu1460del
XR_938400.1:n.4645_4647del
NM_000489.5:c.4377_4379del	NP_000480.3:p.Glu1460del
XM_005262153.5:c.4374_4376del	XP_005262210.2:p.Glu1459del
XM_005262154.5:c.4290_4292del	XP_005262211.2:p.Glu1431del
XM_005262155.4:c.4260_4262del	XP_005262212.2:p.Glu1421del
XM_005262156.4:c.4212_4214del	XP_005262213.2:p.Glu1405del
XM_005262157.5:c.4173_4175del	XP_005262214.2:p.Glu1392del
XM_006724666.4:c.4260_4262del	XP_006724729.1:p.Glu1421del
XM_006724667.3:c.4098_4100del	XP_006724730.1:p.Glu1367del
XM_006724668.3:c.4377_4379del	XP_006724731.1:p.Glu1460del
XM_017029601.2:c.4287_4289del	XP_016885090.1:p.Glu1430del
XM_017029602.1:c.4257_4259del	XP_016885091.1:p.Glu1420del
XM_017029603.1:c.4209_4211del	XP_016885092.1:p.Glu1404del
XM_017029604.2:c.4176_4178del	XP_016885093.1:p.Glu1393del
XM_017029605.1:c.4173_4175del	XP_016885094.1:p.Glu1392del
XM_017029606.2:c.4146_4148del	XP_016885095.1:p.Glu1383del
XM_017029607.2:c.4143_4145del	XP_016885096.1:p.Glu1382del
XM_017029608.2:c.4095_4097del	XP_016885097.1:p.Glu1366del
XM_017029609.1:c.4059_4061del	XP_016885098.1:p.Glu1354del
XM_017029610.1:c.4056_4058del	XP_016885099.1:p.Glu1353del
XM_017029611.1:c.4011_4013del	XP_016885100.1:p.Glu1338del
XR_001755700.2:n.4602_4604del
NM_138270.4:c.4263_4265del	NP_612114.2:p.Glu1422del
NM_000489.6:c.4377_4379del MANE Select	NP_000480.3:p.Glu1460del
NM_138270.5:c.4263_4265del	NP_612114.2:p.Glu1422del