Canonical Allele Identifier: CA2438976849
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652276_77652306delinsATCTTCCTCCTCCTCTTCCTCCTCCTCCTCC , CM000685.2:g.77652276_77652306delinsATCTTCCTCCTCCTCTTCCTCCTCCTCCTCC GRCh38
NC_000023.10:g.76907766_76907796delinsATCTTCCTCCTCCTCTTCCTCCTCCTCCTCC , CM000685.1:g.76907766_76907796delinsATCTTCCTCCTCCTCTTCCTCCTCCTCCTCC GRCh37
NC_000023.9:g.76794422_76794452delinsATCTTCCTCCTCCTCTTCCTCCTCCTCCTCC NCBI36
NG_008838.2:g.138916_138946delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT
NG_008838.3:g.138964_138994delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4365_4395delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT MANE Select ENSP00000362441.4:p.Glu1455=
ENST00000373344.9:c.4365_4395delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT ENSP00000362441.4:p.Glu1455=
ENST00000395603.7:c.4251_4281delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT ENSP00000378967.3:p.Glu1417=
ENST00000480283.5:c.*3993_*4023delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT ENSP00000480196.1:n.*3993_*4023delinsGGAGGAGGAGGAGGAAGAGGAGGA...
NM_000489.4:c.4365_4395delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT NP_000480.3:p.Glu1455=
NM_138270.3:c.4251_4281delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT NP_612114.2:p.Glu1417=
XM_005262153.3:c.4362_4392delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_005262210.2:p.Glu1454=
XM_005262154.3:c.4278_4308delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_005262211.2:p.Glu1426=
XM_005262155.3:c.4248_4278delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_005262212.2:p.Glu1416=
XM_005262156.3:c.4200_4230delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_005262213.2:p.Glu1400=
XM_005262157.3:c.4161_4191delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_005262214.2:p.Glu1387=
XM_006724666.2:c.4248_4278delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_006724729.1:p.Glu1416=
XM_006724667.2:c.4086_4116delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_006724730.1:p.Glu1362=
XM_006724668.2:c.4365_4395delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_006724731.1:p.Glu1455=
XR_938400.1:n.4633_4663delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT
NM_000489.5:c.4365_4395delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT NP_000480.3:p.Glu1455=
XM_005262153.5:c.4362_4392delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_005262210.2:p.Glu1454=
XM_005262154.5:c.4278_4308delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_005262211.2:p.Glu1426=
XM_005262155.4:c.4248_4278delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_005262212.2:p.Glu1416=
XM_005262156.4:c.4200_4230delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_005262213.2:p.Glu1400=
XM_005262157.5:c.4161_4191delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_005262214.2:p.Glu1387=
XM_006724666.4:c.4248_4278delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_006724729.1:p.Glu1416=
XM_006724667.3:c.4086_4116delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_006724730.1:p.Glu1362=
XM_006724668.3:c.4365_4395delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_006724731.1:p.Glu1455=
XM_017029601.2:c.4275_4305delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_016885090.1:p.Glu1425=
XM_017029602.1:c.4245_4275delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_016885091.1:p.Glu1415=
XM_017029603.1:c.4197_4227delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_016885092.1:p.Glu1399=
XM_017029604.2:c.4164_4194delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_016885093.1:p.Glu1388=
XM_017029605.1:c.4161_4191delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_016885094.1:p.Glu1387=
XM_017029606.2:c.4134_4164delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_016885095.1:p.Glu1378=
XM_017029607.2:c.4131_4161delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_016885096.1:p.Glu1377=
XM_017029608.2:c.4083_4113delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_016885097.1:p.Glu1361=
XM_017029609.1:c.4047_4077delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_016885098.1:p.Glu1349=
XM_017029610.1:c.4044_4074delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_016885099.1:p.Glu1348=
XM_017029611.1:c.3999_4029delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT XP_016885100.1:p.Glu1333=
XR_001755700.2:n.4590_4620delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT
NM_138270.4:c.4251_4281delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT NP_612114.2:p.Glu1417=
NM_000489.6:c.4365_4395delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT MANE Select NP_000480.3:p.Glu1455=
NM_138270.5:c.4251_4281delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT NP_612114.2:p.Glu1417=