Canonical Allele Identifier: CA878374532

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1405640
• ClinVar RCV Id: RCV001935216
• dbSNP Id: rs1312591978
• gnomAD v3: X-77652276-ATCTTCCTCCTCCTCTTCCTCCTCCTCCTCC-A
• gnomAD v4: X-77652276-ATCTTCCTCCTCCTCTTCCTCCTCCTCCTCC-A
• MyVariant Identifiers: chrX:g.77652277_77652306del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652294_77652323del , CM000685.2:g.77652294_77652323del	GRCh38
NC_000023.10:g.76907784_76907813del , CM000685.1:g.76907784_76907813del	GRCh37
NC_000023.9:g.76794440_76794469del	NCBI36
NG_008838.2:g.138916_138945del
NG_008838.3:g.138964_138993del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4365_4394del MANE Select	ENSP00000362441.4:p.Glu1455_Glu1464del
ENST00000373344.9:c.4365_4394del	ENSP00000362441.4:p.Glu1455_Glu1464del
ENST00000395603.7:c.4251_4280del	ENSP00000378967.3:p.Glu1417_Glu1426del
ENST00000480283.5:c.*3993_*4022del	ENSP00000480196.1:n.*3993_*4022del
NM_000489.4:c.4365_4394del	NP_000480.3:p.Glu1455_Glu1464del
NM_138270.3:c.4251_4280del	NP_612114.2:p.Glu1417_Glu1426del
XM_005262153.3:c.4362_4391del	XP_005262210.2:p.Glu1454_Glu1463del
XM_005262154.3:c.4278_4307del	XP_005262211.2:p.Glu1426_Glu1435del
XM_005262155.3:c.4248_4277del	XP_005262212.2:p.Glu1416_Glu1425del
XM_005262156.3:c.4200_4229del	XP_005262213.2:p.Glu1400_Glu1409del
XM_005262157.3:c.4161_4190del	XP_005262214.2:p.Glu1387_Glu1396del
XM_006724666.2:c.4248_4277del	XP_006724729.1:p.Glu1416_Glu1425del
XM_006724667.2:c.4086_4115del	XP_006724730.1:p.Glu1362_Glu1371del
XM_006724668.2:c.4365_4394del	XP_006724731.1:p.Glu1455_Glu1464del
XR_938400.1:n.4633_4662del
NM_000489.5:c.4365_4394del	NP_000480.3:p.Glu1455_Glu1464del
XM_005262153.5:c.4362_4391del	XP_005262210.2:p.Glu1454_Glu1463del
XM_005262154.5:c.4278_4307del	XP_005262211.2:p.Glu1426_Glu1435del
XM_005262155.4:c.4248_4277del	XP_005262212.2:p.Glu1416_Glu1425del
XM_005262156.4:c.4200_4229del	XP_005262213.2:p.Glu1400_Glu1409del
XM_005262157.5:c.4161_4190del	XP_005262214.2:p.Glu1387_Glu1396del
XM_006724666.4:c.4248_4277del	XP_006724729.1:p.Glu1416_Glu1425del
XM_006724667.3:c.4086_4115del	XP_006724730.1:p.Glu1362_Glu1371del
XM_006724668.3:c.4365_4394del	XP_006724731.1:p.Glu1455_Glu1464del
XM_017029601.2:c.4275_4304del	XP_016885090.1:p.Glu1425_Glu1434del
XM_017029602.1:c.4245_4274del	XP_016885091.1:p.Glu1415_Glu1424del
XM_017029603.1:c.4197_4226del	XP_016885092.1:p.Glu1399_Glu1408del
XM_017029604.2:c.4164_4193del	XP_016885093.1:p.Glu1388_Glu1397del
XM_017029605.1:c.4161_4190del	XP_016885094.1:p.Glu1387_Glu1396del
XM_017029606.2:c.4134_4163del	XP_016885095.1:p.Glu1378_Glu1387del
XM_017029607.2:c.4131_4160del	XP_016885096.1:p.Glu1377_Glu1386del
XM_017029608.2:c.4083_4112del	XP_016885097.1:p.Glu1361_Glu1370del
XM_017029609.1:c.4047_4076del	XP_016885098.1:p.Glu1349_Glu1358del
XM_017029610.1:c.4044_4073del	XP_016885099.1:p.Glu1348_Glu1357del
XM_017029611.1:c.3999_4028del	XP_016885100.1:p.Glu1333_Glu1342del
XR_001755700.2:n.4590_4619del
NM_138270.4:c.4251_4280del	NP_612114.2:p.Glu1417_Glu1426del
NM_000489.6:c.4365_4394del MANE Select	NP_000480.3:p.Glu1455_Glu1464del
NM_138270.5:c.4251_4280del	NP_612114.2:p.Glu1417_Glu1426del