Canonical Allele Identifier: CA10457803

Gene: ATRX

Linked Data

• ClinVar Variation Id: 533623
• ClinVar RCV Id: RCV000659167 ; RCV000640825
• dbSNP Id: rs782630348
• ExAC: X:76907799 TTCC / T
• gnomAD v2: X-76907799-TTCC-T
• gnomAD v3: X-77652309-TTCC-T
• gnomAD v4: X-77652309-TTCC-T
• MyVariant Identifiers: chrX:g.76907800_76907802del (hg19) ; chrX:g.77652311_77652313del (hg38) ; chrX:g.77652310_77652312del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652318_77652320del , CM000685.2:g.77652318_77652320del	GRCh38
NC_000023.10:g.76907808_76907810del , CM000685.1:g.76907808_76907810del	GRCh37
NC_000023.9:g.76794464_76794466del	NCBI36
NG_008838.2:g.138910_138912del
NG_008838.3:g.138958_138960del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4359_4361del MANE Select	ENSP00000362441.4:p.Glu1454del
ENST00000373344.9:c.4359_4361del	ENSP00000362441.4:p.Glu1454del
ENST00000395603.7:c.4245_4247del	ENSP00000378967.3:p.Glu1416del
ENST00000480283.5:c.*3987_*3989del	ENSP00000480196.1:n.*3987_*3989del
NM_000489.4:c.4359_4361del	NP_000480.3:p.Glu1454del
NM_138270.3:c.4245_4247del	NP_612114.2:p.Glu1416del
XM_005262153.3:c.4356_4358del	XP_005262210.2:p.Glu1453del
XM_005262154.3:c.4272_4274del	XP_005262211.2:p.Glu1425del
XM_005262155.3:c.4242_4244del	XP_005262212.2:p.Glu1415del
XM_005262156.3:c.4194_4196del	XP_005262213.2:p.Glu1399del
XM_005262157.3:c.4155_4157del	XP_005262214.2:p.Glu1386del
XM_006724666.2:c.4242_4244del	XP_006724729.1:p.Glu1415del
XM_006724667.2:c.4080_4082del	XP_006724730.1:p.Glu1361del
XM_006724668.2:c.4359_4361del	XP_006724731.1:p.Glu1454del
XR_938400.1:n.4627_4629del
NM_000489.5:c.4359_4361del	NP_000480.3:p.Glu1454del
XM_005262153.5:c.4356_4358del	XP_005262210.2:p.Glu1453del
XM_005262154.5:c.4272_4274del	XP_005262211.2:p.Glu1425del
XM_005262155.4:c.4242_4244del	XP_005262212.2:p.Glu1415del
XM_005262156.4:c.4194_4196del	XP_005262213.2:p.Glu1399del
XM_005262157.5:c.4155_4157del	XP_005262214.2:p.Glu1386del
XM_006724666.4:c.4242_4244del	XP_006724729.1:p.Glu1415del
XM_006724667.3:c.4080_4082del	XP_006724730.1:p.Glu1361del
XM_006724668.3:c.4359_4361del	XP_006724731.1:p.Glu1454del
XM_017029601.2:c.4269_4271del	XP_016885090.1:p.Glu1424del
XM_017029602.1:c.4239_4241del	XP_016885091.1:p.Glu1414del
XM_017029603.1:c.4191_4193del	XP_016885092.1:p.Glu1398del
XM_017029604.2:c.4158_4160del	XP_016885093.1:p.Glu1387del
XM_017029605.1:c.4155_4157del	XP_016885094.1:p.Glu1386del
XM_017029606.2:c.4128_4130del	XP_016885095.1:p.Glu1377del
XM_017029607.2:c.4125_4127del	XP_016885096.1:p.Glu1376del
XM_017029608.2:c.4077_4079del	XP_016885097.1:p.Glu1360del
XM_017029609.1:c.4041_4043del	XP_016885098.1:p.Glu1348del
XM_017029610.1:c.4038_4040del	XP_016885099.1:p.Glu1347del
XM_017029611.1:c.3993_3995del	XP_016885100.1:p.Glu1332del
XR_001755700.2:n.4584_4586del
NM_138270.4:c.4245_4247del	NP_612114.2:p.Glu1416del
NM_000489.6:c.4359_4361del MANE Select	NP_000480.3:p.Glu1454del
NM_138270.5:c.4245_4247del	NP_612114.2:p.Glu1416del