Canonical Allele Identifier: CA2580612374

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2105654
• ClinVar RCV Id: RCV003023563

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652318_77652320dup , CM000685.2:g.77652318_77652320dup	GRCh38
NC_000023.10:g.76907808_76907810dup , CM000685.1:g.76907808_76907810dup	GRCh37
NC_000023.9:g.76794464_76794466dup	NCBI36
NG_008838.2:g.138910_138912dup
NG_008838.3:g.138958_138960dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4359_4361dup MANE Select	ENSP00000362441.4:p.Glu1454_Glu1455insGlu
ENST00000373344.9:c.4359_4361dup	ENSP00000362441.4:p.Glu1454_Glu1455insGlu
ENST00000395603.7:c.4245_4247dup	ENSP00000378967.3:p.Glu1416_Glu1417insGlu
ENST00000480283.5:c.*3987_*3989dup	ENSP00000480196.1:n.*3987_*3989dup
NM_000489.4:c.4359_4361dup	NP_000480.3:p.Glu1454_Glu1455insGlu
NM_138270.3:c.4245_4247dup	NP_612114.2:p.Glu1416_Glu1417insGlu
XM_005262153.3:c.4356_4358dup	XP_005262210.2:p.Glu1453_Glu1454insGlu
XM_005262154.3:c.4272_4274dup	XP_005262211.2:p.Glu1425_Glu1426insGlu
XM_005262155.3:c.4242_4244dup	XP_005262212.2:p.Glu1415_Glu1416insGlu
XM_005262156.3:c.4194_4196dup	XP_005262213.2:p.Glu1399_Glu1400insGlu
XM_005262157.3:c.4155_4157dup	XP_005262214.2:p.Glu1386_Glu1387insGlu
XM_006724666.2:c.4242_4244dup	XP_006724729.1:p.Glu1415_Glu1416insGlu
XM_006724667.2:c.4080_4082dup	XP_006724730.1:p.Glu1361_Glu1362insGlu
XM_006724668.2:c.4359_4361dup	XP_006724731.1:p.Glu1454_Glu1455insGlu
XR_938400.1:n.4627_4629dup
NM_000489.5:c.4359_4361dup	NP_000480.3:p.Glu1454_Glu1455insGlu
XM_005262153.5:c.4356_4358dup	XP_005262210.2:p.Glu1453_Glu1454insGlu
XM_005262154.5:c.4272_4274dup	XP_005262211.2:p.Glu1425_Glu1426insGlu
XM_005262155.4:c.4242_4244dup	XP_005262212.2:p.Glu1415_Glu1416insGlu
XM_005262156.4:c.4194_4196dup	XP_005262213.2:p.Glu1399_Glu1400insGlu
XM_005262157.5:c.4155_4157dup	XP_005262214.2:p.Glu1386_Glu1387insGlu
XM_006724666.4:c.4242_4244dup	XP_006724729.1:p.Glu1415_Glu1416insGlu
XM_006724667.3:c.4080_4082dup	XP_006724730.1:p.Glu1361_Glu1362insGlu
XM_006724668.3:c.4359_4361dup	XP_006724731.1:p.Glu1454_Glu1455insGlu
XM_017029601.2:c.4269_4271dup	XP_016885090.1:p.Glu1424_Glu1425insGlu
XM_017029602.1:c.4239_4241dup	XP_016885091.1:p.Glu1414_Glu1415insGlu
XM_017029603.1:c.4191_4193dup	XP_016885092.1:p.Glu1398_Glu1399insGlu
XM_017029604.2:c.4158_4160dup	XP_016885093.1:p.Glu1387_Glu1388insGlu
XM_017029605.1:c.4155_4157dup	XP_016885094.1:p.Glu1386_Glu1387insGlu
XM_017029606.2:c.4128_4130dup	XP_016885095.1:p.Glu1377_Glu1378insGlu
XM_017029607.2:c.4125_4127dup	XP_016885096.1:p.Glu1376_Glu1377insGlu
XM_017029608.2:c.4077_4079dup	XP_016885097.1:p.Glu1360_Glu1361insGlu
XM_017029609.1:c.4041_4043dup	XP_016885098.1:p.Glu1348_Glu1349insGlu
XM_017029610.1:c.4038_4040dup	XP_016885099.1:p.Glu1347_Glu1348insGlu
XM_017029611.1:c.3993_3995dup	XP_016885100.1:p.Glu1332_Glu1333insGlu
XR_001755700.2:n.4584_4586dup
NM_138270.4:c.4245_4247dup	NP_612114.2:p.Glu1416_Glu1417insGlu
NM_000489.6:c.4359_4361dup MANE Select	NP_000480.3:p.Glu1454_Glu1455insGlu
NM_138270.5:c.4245_4247dup	NP_612114.2:p.Glu1416_Glu1417insGlu