Canonical Allele Identifier: CA2694142561

Gene: ATRX

Linked Data

• gnomAD v4: X-77652323-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652328del , CM000685.2:g.77652328del	GRCh38
NC_000023.10:g.76907818del , CM000685.1:g.76907818del	GRCh37
NC_000023.9:g.76794474del	NCBI36
NG_008838.2:g.138898del
NG_008838.3:g.138946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4347del MANE Select	ENSP00000362441.4:p.Glu1450LysfsTer?
ENST00000373344.9:c.4347del	ENSP00000362441.4:p.Glu1450LysfsTer?
ENST00000395603.7:c.4233del	ENSP00000378967.3:p.Glu1412LysfsTer?
ENST00000480283.5:c.*3975del	ENSP00000480196.1:n.*3975del
NM_000489.4:c.4347del	NP_000480.3:p.Glu1450LysfsTer?
NM_138270.3:c.4233del	NP_612114.2:p.Glu1412LysfsTer?
XM_005262153.3:c.4344del	XP_005262210.2:p.Glu1449LysfsTer?
XM_005262154.3:c.4260del	XP_005262211.2:p.Glu1421LysfsTer?
XM_005262155.3:c.4230del	XP_005262212.2:p.Glu1411LysfsTer?
XM_005262156.3:c.4182del	XP_005262213.2:p.Glu1395LysfsTer?
XM_005262157.3:c.4143del	XP_005262214.2:p.Glu1382LysfsTer?
XM_006724666.2:c.4230del	XP_006724729.1:p.Glu1411LysfsTer?
XM_006724667.2:c.4068del	XP_006724730.1:p.Glu1357LysfsTer?
XM_006724668.2:c.4347del	XP_006724731.1:p.Glu1450LysfsTer?
XR_938400.1:n.4615del
NM_000489.5:c.4347del	NP_000480.3:p.Glu1450LysfsTer?
XM_005262153.5:c.4344del	XP_005262210.2:p.Glu1449LysfsTer?
XM_005262154.5:c.4260del	XP_005262211.2:p.Glu1421LysfsTer?
XM_005262155.4:c.4230del	XP_005262212.2:p.Glu1411LysfsTer?
XM_005262156.4:c.4182del	XP_005262213.2:p.Glu1395LysfsTer?
XM_005262157.5:c.4143del	XP_005262214.2:p.Glu1382LysfsTer?
XM_006724666.4:c.4230del	XP_006724729.1:p.Glu1411LysfsTer?
XM_006724667.3:c.4068del	XP_006724730.1:p.Glu1357LysfsTer?
XM_006724668.3:c.4347del	XP_006724731.1:p.Glu1450LysfsTer?
XM_017029601.2:c.4257del	XP_016885090.1:p.Glu1420LysfsTer?
XM_017029602.1:c.4227del	XP_016885091.1:p.Glu1410LysfsTer?
XM_017029603.1:c.4179del	XP_016885092.1:p.Glu1394LysfsTer?
XM_017029604.2:c.4146del	XP_016885093.1:p.Glu1383LysfsTer?
XM_017029605.1:c.4143del	XP_016885094.1:p.Glu1382LysfsTer?
XM_017029606.2:c.4116del	XP_016885095.1:p.Glu1373LysfsTer?
XM_017029607.2:c.4113del	XP_016885096.1:p.Glu1372LysfsTer?
XM_017029608.2:c.4065del	XP_016885097.1:p.Glu1356LysfsTer?
XM_017029609.1:c.4029del	XP_016885098.1:p.Glu1344LysfsTer?
XM_017029610.1:c.4026del	XP_016885099.1:p.Glu1343LysfsTer?
XM_017029611.1:c.3981del	XP_016885100.1:p.Glu1328LysfsTer?
XR_001755700.2:n.4572del
NM_138270.4:c.4233del	NP_612114.2:p.Glu1412LysfsTer?
NM_000489.6:c.4347del MANE Select	NP_000480.3:p.Glu1450LysfsTer?
NM_138270.5:c.4233del	NP_612114.2:p.Glu1412LysfsTer?