Canonical Allele Identifier: CA645616275
Gene: ATRX HGNC NCBI

Linked Data

COSMIC: COSM85859

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652258dup , CM000685.2:g.77652258dup GRCh38
NC_000023.10:g.76907748dup , CM000685.1:g.76907748dup GRCh37
NC_000023.9:g.76794404dup NCBI36
NG_008838.2:g.138964dup
NG_008838.3:g.139012dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4413dup MANE Select ENSP00000362441.4:p.Ser1472ValfsTer14
ENST00000373344.9:c.4413dup ENSP00000362441.4:p.Ser1472ValfsTer14
ENST00000395603.7:c.4299dup ENSP00000378967.3:p.Ser1434ValfsTer14
ENST00000480283.5:c.*4041dup ENSP00000480196.1:n.*4041dup
ENST00000623242.3:c.19dup
NM_000489.4:c.4413dup NP_000480.3:p.Ser1472ValfsTer14
NM_138270.3:c.4299dup NP_612114.2:p.Ser1434ValfsTer14
XM_005262153.3:c.4410dup XP_005262210.2:p.Ser1471ValfsTer14
XM_005262154.3:c.4326dup XP_005262211.2:p.Ser1443ValfsTer14
XM_005262155.3:c.4296dup XP_005262212.2:p.Ser1433ValfsTer14
XM_005262156.3:c.4248dup XP_005262213.2:p.Ser1417ValfsTer14
XM_005262157.3:c.4209dup XP_005262214.2:p.Ser1404ValfsTer14
XM_006724666.2:c.4296dup XP_006724729.1:p.Ser1433ValfsTer14
XM_006724667.2:c.4134dup XP_006724730.1:p.Ser1379ValfsTer14
XM_006724668.2:c.4413dup XP_006724731.1:p.Ser1472ValfsTer14
XR_938400.1:n.4681dup
NM_000489.5:c.4413dup NP_000480.3:p.Ser1472ValfsTer14
XM_005262153.5:c.4410dup XP_005262210.2:p.Ser1471ValfsTer14
XM_005262154.5:c.4326dup XP_005262211.2:p.Ser1443ValfsTer14
XM_005262155.4:c.4296dup XP_005262212.2:p.Ser1433ValfsTer14
XM_005262156.4:c.4248dup XP_005262213.2:p.Ser1417ValfsTer14
XM_005262157.5:c.4209dup XP_005262214.2:p.Ser1404ValfsTer14
XM_006724666.4:c.4296dup XP_006724729.1:p.Ser1433ValfsTer14
XM_006724667.3:c.4134dup XP_006724730.1:p.Ser1379ValfsTer14
XM_006724668.3:c.4413dup XP_006724731.1:p.Ser1472ValfsTer14
XM_017029601.2:c.4323dup XP_016885090.1:p.Ser1442ValfsTer14
XM_017029602.1:c.4293dup XP_016885091.1:p.Ser1432ValfsTer14
XM_017029603.1:c.4245dup XP_016885092.1:p.Ser1416ValfsTer14
XM_017029604.2:c.4212dup XP_016885093.1:p.Ser1405ValfsTer14
XM_017029605.1:c.4209dup XP_016885094.1:p.Ser1404ValfsTer14
XM_017029606.2:c.4182dup XP_016885095.1:p.Ser1395ValfsTer14
XM_017029607.2:c.4179dup XP_016885096.1:p.Ser1394ValfsTer14
XM_017029608.2:c.4131dup XP_016885097.1:p.Ser1378ValfsTer14
XM_017029609.1:c.4095dup XP_016885098.1:p.Ser1366ValfsTer14
XM_017029610.1:c.4092dup XP_016885099.1:p.Ser1365ValfsTer14
XM_017029611.1:c.4047dup XP_016885100.1:p.Ser1350ValfsTer14
XR_001755700.2:n.4638dup
NM_138270.4:c.4299dup NP_612114.2:p.Ser1434ValfsTer14
NM_000489.6:c.4413dup MANE Select NP_000480.3:p.Ser1472ValfsTer14
NM_138270.5:c.4299dup NP_612114.2:p.Ser1434ValfsTer14