Canonical Allele Identifier: CA2438989291

Gene: ATRX

Linked Data

• dbSNP Id: rs2071719511
• gnomAD v3: X-77688740-GACTGT-G
• gnomAD v4: X-77688740-GACTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77688741_77688745del , CM000685.2:g.77688741_77688745del	GRCh38
NC_000023.10:g.76944234_76944238del , CM000685.1:g.76944234_76944238del	GRCh37
NC_000023.9:g.76830890_76830894del	NCBI36
NG_008838.2:g.102477_102481del
NG_008838.3:g.102525_102529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.594+73_594+77del MANE Select	ENSP00000362441.4:n.594+73_594+77del
ENST00000373344.9:c.594+73_594+77del	ENSP00000362441.4:n.594+73_594+77del
ENST00000395603.7:c.480+73_480+77del	ENSP00000378967.3:n.480+73_480+77del
ENST00000480283.5:c.*222+73_*222+77del	ENSP00000480196.1:n.*222+73_*222+77del
ENST00000623321.3:c.429+73_429+77del	ENSP00000485127.1:n.429+73_429+77del
ENST00000624032.3:c.594+73_594+77del	ENSP00000485253.1:n.594+73_594+77del
ENST00000624166.3:c.477+73_477+77del	ENSP00000485103.1:n.477+73_477+77del
ENST00000624668.3:c.315+73_315+77del	ENSP00000485100.1:n.315+73_315+77del
ENST00000625063.3:c.409+73_409+77del
NM_000489.4:c.594+73_594+77del	NP_000480.3:n.594+73_594+77del
NM_138270.3:c.480+73_480+77del	NP_612114.2:n.480+73_480+77del
XM_005262153.3:c.591+73_591+77del	XP_005262210.2:n.591+73_591+77del
XM_005262154.3:c.594+73_594+77del	XP_005262211.2:n.594+73_594+77del
XM_005262155.3:c.477+73_477+77del	XP_005262212.2:n.477+73_477+77del
XM_005262156.3:c.429+73_429+77del	XP_005262213.2:n.429+73_429+77del
XM_005262157.3:c.477+73_477+77del	XP_005262214.2:n.477+73_477+77del
XM_006724666.2:c.477+73_477+77del	XP_006724729.1:n.477+73_477+77del
XM_006724667.2:c.315+73_315+77del	XP_006724730.1:n.315+73_315+77del
XM_006724668.2:c.594+73_594+77del	XP_006724731.1:n.594+73_594+77del
XR_938400.1:n.862+73_862+77del
NM_000489.5:c.594+73_594+77del	NP_000480.3:n.594+73_594+77del
XM_005262153.5:c.591+73_591+77del	XP_005262210.2:n.591+73_591+77del
XM_005262154.5:c.594+73_594+77del	XP_005262211.2:n.594+73_594+77del
XM_005262155.4:c.477+73_477+77del	XP_005262212.2:n.477+73_477+77del
XM_005262156.4:c.429+73_429+77del	XP_005262213.2:n.429+73_429+77del
XM_005262157.5:c.477+73_477+77del	XP_005262214.2:n.477+73_477+77del
XM_006724666.4:c.477+73_477+77del	XP_006724729.1:n.477+73_477+77del
XM_006724667.3:c.315+73_315+77del	XP_006724730.1:n.315+73_315+77del
XM_006724668.3:c.594+73_594+77del	XP_006724731.1:n.594+73_594+77del
XM_017029601.2:c.591+73_591+77del	XP_016885090.1:n.591+73_591+77del
XM_017029602.1:c.474+73_474+77del	XP_016885091.1:n.474+73_474+77del
XM_017029603.1:c.426+73_426+77del	XP_016885092.1:n.426+73_426+77del
XM_017029604.2:c.480+73_480+77del	XP_016885093.1:n.480+73_480+77del
XM_017029605.1:c.477+73_477+77del	XP_016885094.1:n.477+73_477+77del
XM_017029606.2:c.363+73_363+77del	XP_016885095.1:n.363+73_363+77del
XM_017029607.2:c.360+73_360+77del	XP_016885096.1:n.360+73_360+77del
XM_017029608.2:c.312+73_312+77del	XP_016885097.1:n.312+73_312+77del
XM_017029609.1:c.363+73_363+77del	XP_016885098.1:n.363+73_363+77del
XM_017029610.1:c.360+73_360+77del	XP_016885099.1:n.360+73_360+77del
XM_017029611.1:c.315+73_315+77del	XP_016885100.1:n.315+73_315+77del
XR_001755700.2:n.819+73_819+77del
NM_138270.4:c.480+73_480+77del	NP_612114.2:n.480+73_480+77del
NM_000489.6:c.594+73_594+77del MANE Select	NP_000480.3:n.594+73_594+77del
NM_138270.5:c.480+73_480+77del	NP_612114.2:n.480+73_480+77del