Canonical Allele Identifier: CA10457800

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1634385
• ClinVar RCV Id: RCV002142847
• dbSNP Id: rs781816162
• ExAC: X:76907790 CTCCTCCTCT / C
• gnomAD v2: X-76907790-CTCCTCCTCT-C
• gnomAD v4: X-77652300-CTCCTCCTCT-C
• MyVariant Identifiers: chrX:g.76907791_76907799del (hg19) ; chrX:g.77652301_77652309del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652309_77652317del , CM000685.2:g.77652309_77652317del	GRCh38
NC_000023.10:g.76907799_76907807del , CM000685.1:g.76907799_76907807del	GRCh37
NC_000023.9:g.76794455_76794463del	NCBI36
NG_008838.2:g.138913_138921del
NG_008838.3:g.138961_138969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4362_4370del MANE Select	ENSP00000362441.4:p.Glu1455_Glu1457del
ENST00000373344.9:c.4362_4370del	ENSP00000362441.4:p.Glu1455_Glu1457del
ENST00000395603.7:c.4248_4256del	ENSP00000378967.3:p.Glu1417_Glu1419del
ENST00000480283.5:c.*3990_*3998del	ENSP00000480196.1:n.*3990_*3998del
NM_000489.4:c.4362_4370del	NP_000480.3:p.Glu1455_Glu1457del
NM_138270.3:c.4248_4256del	NP_612114.2:p.Glu1417_Glu1419del
XM_005262153.3:c.4359_4367del	XP_005262210.2:p.Glu1454_Glu1456del
XM_005262154.3:c.4275_4283del	XP_005262211.2:p.Glu1426_Glu1428del
XM_005262155.3:c.4245_4253del	XP_005262212.2:p.Glu1416_Glu1418del
XM_005262156.3:c.4197_4205del	XP_005262213.2:p.Glu1400_Glu1402del
XM_005262157.3:c.4158_4166del	XP_005262214.2:p.Glu1387_Glu1389del
XM_006724666.2:c.4245_4253del	XP_006724729.1:p.Glu1416_Glu1418del
XM_006724667.2:c.4083_4091del	XP_006724730.1:p.Glu1362_Glu1364del
XM_006724668.2:c.4362_4370del	XP_006724731.1:p.Glu1455_Glu1457del
XR_938400.1:n.4630_4638del
NM_000489.5:c.4362_4370del	NP_000480.3:p.Glu1455_Glu1457del
XM_005262153.5:c.4359_4367del	XP_005262210.2:p.Glu1454_Glu1456del
XM_005262154.5:c.4275_4283del	XP_005262211.2:p.Glu1426_Glu1428del
XM_005262155.4:c.4245_4253del	XP_005262212.2:p.Glu1416_Glu1418del
XM_005262156.4:c.4197_4205del	XP_005262213.2:p.Glu1400_Glu1402del
XM_005262157.5:c.4158_4166del	XP_005262214.2:p.Glu1387_Glu1389del
XM_006724666.4:c.4245_4253del	XP_006724729.1:p.Glu1416_Glu1418del
XM_006724667.3:c.4083_4091del	XP_006724730.1:p.Glu1362_Glu1364del
XM_006724668.3:c.4362_4370del	XP_006724731.1:p.Glu1455_Glu1457del
XM_017029601.2:c.4272_4280del	XP_016885090.1:p.Glu1425_Glu1427del
XM_017029602.1:c.4242_4250del	XP_016885091.1:p.Glu1415_Glu1417del
XM_017029603.1:c.4194_4202del	XP_016885092.1:p.Glu1399_Glu1401del
XM_017029604.2:c.4161_4169del	XP_016885093.1:p.Glu1388_Glu1390del
XM_017029605.1:c.4158_4166del	XP_016885094.1:p.Glu1387_Glu1389del
XM_017029606.2:c.4131_4139del	XP_016885095.1:p.Glu1378_Glu1380del
XM_017029607.2:c.4128_4136del	XP_016885096.1:p.Glu1377_Glu1379del
XM_017029608.2:c.4080_4088del	XP_016885097.1:p.Glu1361_Glu1363del
XM_017029609.1:c.4044_4052del	XP_016885098.1:p.Glu1349_Glu1351del
XM_017029610.1:c.4041_4049del	XP_016885099.1:p.Glu1348_Glu1350del
XM_017029611.1:c.3996_4004del	XP_016885100.1:p.Glu1333_Glu1335del
XR_001755700.2:n.4587_4595del
NM_138270.4:c.4248_4256del	NP_612114.2:p.Glu1417_Glu1419del
NM_000489.6:c.4362_4370del MANE Select	NP_000480.3:p.Glu1455_Glu1457del
NM_138270.5:c.4248_4256del	NP_612114.2:p.Glu1417_Glu1419del