Canonical Allele Identifier: CA2694140376

Gene: ATRX

Linked Data

• gnomAD v4: X-77574292-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574294del , CM000685.2:g.77574294del	GRCh38
NC_000023.10:g.76829759del , CM000685.1:g.76829759del	GRCh37
NC_000023.9:g.76716415del	NCBI36
NG_008838.2:g.216929del
NG_008838.3:g.216977del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6283del MANE Select	ENSP00000362441.4:p.Arg2095GlyfsTer14
ENST00000675732.1:c.1381del	ENSP00000502598.1:p.Arg461GlyfsTer14
ENST00000373344.9:c.6283del	ENSP00000362441.4:p.Arg2095GlyfsTer14
ENST00000395603.7:c.6169del	ENSP00000378967.3:p.Arg2057GlyfsTer14
ENST00000480283.5:c.*5911del	ENSP00000480196.1:n.*5911del
ENST00000623316.1:c.767del
ENST00000623706.3:n.3353del
NM_000489.4:c.6283del	NP_000480.3:p.Arg2095GlyfsTer14
NM_138270.3:c.6169del	NP_612114.2:p.Arg2057GlyfsTer14
XM_005262153.3:c.6280del	XP_005262210.2:p.Arg2094GlyfsTer14
XM_005262154.3:c.6196del	XP_005262211.2:p.Arg2066GlyfsTer14
XM_005262155.3:c.6166del	XP_005262212.2:p.Arg2056GlyfsTer14
XM_005262156.3:c.6118del	XP_005262213.2:p.Arg2040GlyfsTer14
XM_005262157.3:c.6079del	XP_005262214.2:p.Arg2027GlyfsTer14
XM_006724666.2:c.6166del	XP_006724729.1:p.Arg2056GlyfsTer14
XM_006724667.2:c.6004del	XP_006724730.1:p.Arg2002GlyfsTer14
XR_938400.1:n.6625del
NM_000489.5:c.6283del	NP_000480.3:p.Arg2095GlyfsTer14
XM_005262153.5:c.6280del	XP_005262210.2:p.Arg2094GlyfsTer14
XM_005262154.5:c.6196del	XP_005262211.2:p.Arg2066GlyfsTer14
XM_005262155.4:c.6166del	XP_005262212.2:p.Arg2056GlyfsTer14
XM_005262156.4:c.6118del	XP_005262213.2:p.Arg2040GlyfsTer14
XM_005262157.5:c.6079del	XP_005262214.2:p.Arg2027GlyfsTer14
XM_006724666.4:c.6166del	XP_006724729.1:p.Arg2056GlyfsTer14
XM_006724667.3:c.6004del	XP_006724730.1:p.Arg2002GlyfsTer14
XM_017029601.2:c.6193del	XP_016885090.1:p.Arg2065GlyfsTer14
XM_017029602.1:c.6163del	XP_016885091.1:p.Arg2055GlyfsTer14
XM_017029603.1:c.6115del	XP_016885092.1:p.Arg2039GlyfsTer14
XM_017029604.2:c.6082del	XP_016885093.1:p.Arg2028GlyfsTer14
XM_017029605.1:c.6079del	XP_016885094.1:p.Arg2027GlyfsTer14
XM_017029606.2:c.6052del	XP_016885095.1:p.Arg2018GlyfsTer14
XM_017029607.2:c.6049del	XP_016885096.1:p.Arg2017GlyfsTer14
XM_017029608.2:c.6001del	XP_016885097.1:p.Arg2001GlyfsTer14
XM_017029609.1:c.5965del	XP_016885098.1:p.Arg1989GlyfsTer14
XM_017029610.1:c.5962del	XP_016885099.1:p.Arg1988GlyfsTer14
XM_017029611.1:c.5917del	XP_016885100.1:p.Arg1973GlyfsTer14
XR_001755700.2:n.6582del
NM_138270.4:c.6169del	NP_612114.2:p.Arg2057GlyfsTer14
NM_000489.6:c.6283del MANE Select	NP_000480.3:p.Arg2095GlyfsTer14
NM_138270.5:c.6169del	NP_612114.2:p.Arg2057GlyfsTer14