Canonical Allele Identifier: CA878374794

Gene: ATRX

Linked Data

• ClinVar Variation Id: 666005
• ClinVar RCV Id: RCV000824405 ; RCV002487861
• dbSNP Id: rs1356648720
• gnomAD v3: X-77652333-CTCT-C
• gnomAD v4: X-77652333-CTCT-C
• MyVariant Identifiers: chrX:g.77652334_77652336del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652339_77652341del , CM000685.2:g.77652339_77652341del	GRCh38
NC_000023.10:g.76907829_76907831del , CM000685.1:g.76907829_76907831del	GRCh37
NC_000023.9:g.76794485_76794487del	NCBI36
NG_008838.2:g.138886_138888del
NG_008838.3:g.138934_138936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4335_4337del MANE Select	ENSP00000362441.4:p.Glu1446del
ENST00000373344.9:c.4335_4337del	ENSP00000362441.4:p.Glu1446del
ENST00000395603.7:c.4221_4223del	ENSP00000378967.3:p.Glu1408del
ENST00000480283.5:c.*3963_*3965del	ENSP00000480196.1:n.*3963_*3965del
NM_000489.4:c.4335_4337del	NP_000480.3:p.Glu1446del
NM_138270.3:c.4221_4223del	NP_612114.2:p.Glu1408del
XM_005262153.3:c.4332_4334del	XP_005262210.2:p.Glu1445del
XM_005262154.3:c.4248_4250del	XP_005262211.2:p.Glu1417del
XM_005262155.3:c.4218_4220del	XP_005262212.2:p.Glu1407del
XM_005262156.3:c.4170_4172del	XP_005262213.2:p.Glu1391del
XM_005262157.3:c.4131_4133del	XP_005262214.2:p.Glu1378del
XM_006724666.2:c.4218_4220del	XP_006724729.1:p.Glu1407del
XM_006724667.2:c.4056_4058del	XP_006724730.1:p.Glu1353del
XM_006724668.2:c.4335_4337del	XP_006724731.1:p.Glu1446del
XR_938400.1:n.4603_4605del
NM_000489.5:c.4335_4337del	NP_000480.3:p.Glu1446del
XM_005262153.5:c.4332_4334del	XP_005262210.2:p.Glu1445del
XM_005262154.5:c.4248_4250del	XP_005262211.2:p.Glu1417del
XM_005262155.4:c.4218_4220del	XP_005262212.2:p.Glu1407del
XM_005262156.4:c.4170_4172del	XP_005262213.2:p.Glu1391del
XM_005262157.5:c.4131_4133del	XP_005262214.2:p.Glu1378del
XM_006724666.4:c.4218_4220del	XP_006724729.1:p.Glu1407del
XM_006724667.3:c.4056_4058del	XP_006724730.1:p.Glu1353del
XM_006724668.3:c.4335_4337del	XP_006724731.1:p.Glu1446del
XM_017029601.2:c.4245_4247del	XP_016885090.1:p.Glu1416del
XM_017029602.1:c.4215_4217del	XP_016885091.1:p.Glu1406del
XM_017029603.1:c.4167_4169del	XP_016885092.1:p.Glu1390del
XM_017029604.2:c.4134_4136del	XP_016885093.1:p.Glu1379del
XM_017029605.1:c.4131_4133del	XP_016885094.1:p.Glu1378del
XM_017029606.2:c.4104_4106del	XP_016885095.1:p.Glu1369del
XM_017029607.2:c.4101_4103del	XP_016885096.1:p.Glu1368del
XM_017029608.2:c.4053_4055del	XP_016885097.1:p.Glu1352del
XM_017029609.1:c.4017_4019del	XP_016885098.1:p.Glu1340del
XM_017029610.1:c.4014_4016del	XP_016885099.1:p.Glu1339del
XM_017029611.1:c.3969_3971del	XP_016885100.1:p.Glu1324del
XR_001755700.2:n.4560_4562del
NM_138270.4:c.4221_4223del	NP_612114.2:p.Glu1408del
NM_000489.6:c.4335_4337del MANE Select	NP_000480.3:p.Glu1446del
NM_138270.5:c.4221_4223del	NP_612114.2:p.Glu1408del