Canonical Allele Identifier: CA1134486316

Gene: ATRX

Linked Data

• dbSNP Id: rs2069294788
• gnomAD v3: X-77652387-CAA-C
• gnomAD v4: X-77652387-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652389_77652390del , CM000685.2:g.77652389_77652390del	GRCh38
NC_000023.10:g.76907879_76907880del , CM000685.1:g.76907879_76907880del	GRCh37
NC_000023.9:g.76794535_76794536del	NCBI36
NG_008838.2:g.138833_138834del
NG_008838.3:g.138881_138882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4318-36_4318-35del MANE Select	ENSP00000362441.4:n.4318-36_4318-35del
ENST00000373344.9:c.4318-36_4318-35del	ENSP00000362441.4:n.4318-36_4318-35del
ENST00000395603.7:c.4204-36_4204-35del	ENSP00000378967.3:n.4204-36_4204-35del
ENST00000480283.5:c.*3946-36_*3946-35del	ENSP00000480196.1:n.*3946-36_*3946-35del
NM_000489.4:c.4318-36_4318-35del	NP_000480.3:n.4318-36_4318-35del
NM_138270.3:c.4204-36_4204-35del	NP_612114.2:n.4204-36_4204-35del
XM_005262153.3:c.4315-36_4315-35del	XP_005262210.2:n.4315-36_4315-35del
XM_005262154.3:c.4231-36_4231-35del	XP_005262211.2:n.4231-36_4231-35del
XM_005262155.3:c.4201-36_4201-35del	XP_005262212.2:n.4201-36_4201-35del
XM_005262156.3:c.4153-36_4153-35del	XP_005262213.2:n.4153-36_4153-35del
XM_005262157.3:c.4114-36_4114-35del	XP_005262214.2:n.4114-36_4114-35del
XM_006724666.2:c.4201-36_4201-35del	XP_006724729.1:n.4201-36_4201-35del
XM_006724667.2:c.4039-36_4039-35del	XP_006724730.1:n.4039-36_4039-35del
XM_006724668.2:c.4318-36_4318-35del	XP_006724731.1:n.4318-36_4318-35del
XR_938400.1:n.4586-36_4586-35del
NM_000489.5:c.4318-36_4318-35del	NP_000480.3:n.4318-36_4318-35del
XM_005262153.5:c.4315-36_4315-35del	XP_005262210.2:n.4315-36_4315-35del
XM_005262154.5:c.4231-36_4231-35del	XP_005262211.2:n.4231-36_4231-35del
XM_005262155.4:c.4201-36_4201-35del	XP_005262212.2:n.4201-36_4201-35del
XM_005262156.4:c.4153-36_4153-35del	XP_005262213.2:n.4153-36_4153-35del
XM_005262157.5:c.4114-36_4114-35del	XP_005262214.2:n.4114-36_4114-35del
XM_006724666.4:c.4201-36_4201-35del	XP_006724729.1:n.4201-36_4201-35del
XM_006724667.3:c.4039-36_4039-35del	XP_006724730.1:n.4039-36_4039-35del
XM_006724668.3:c.4318-36_4318-35del	XP_006724731.1:n.4318-36_4318-35del
XM_017029601.2:c.4228-36_4228-35del	XP_016885090.1:n.4228-36_4228-35del
XM_017029602.1:c.4198-36_4198-35del	XP_016885091.1:n.4198-36_4198-35del
XM_017029603.1:c.4150-36_4150-35del	XP_016885092.1:n.4150-36_4150-35del
XM_017029604.2:c.4117-36_4117-35del	XP_016885093.1:n.4117-36_4117-35del
XM_017029605.1:c.4114-36_4114-35del	XP_016885094.1:n.4114-36_4114-35del
XM_017029606.2:c.4087-36_4087-35del	XP_016885095.1:n.4087-36_4087-35del
XM_017029607.2:c.4084-36_4084-35del	XP_016885096.1:n.4084-36_4084-35del
XM_017029608.2:c.4036-36_4036-35del	XP_016885097.1:n.4036-36_4036-35del
XM_017029609.1:c.4000-36_4000-35del	XP_016885098.1:n.4000-36_4000-35del
XM_017029610.1:c.3997-36_3997-35del	XP_016885099.1:n.3997-36_3997-35del
XM_017029611.1:c.3952-36_3952-35del	XP_016885100.1:n.3952-36_3952-35del
XR_001755700.2:n.4543-36_4543-35del
NM_138270.4:c.4204-36_4204-35del	NP_612114.2:n.4204-36_4204-35del
NM_000489.6:c.4318-36_4318-35del MANE Select	NP_000480.3:n.4318-36_4318-35del
NM_138270.5:c.4204-36_4204-35del	NP_612114.2:n.4204-36_4204-35del