Canonical Allele Identifier: CA878374547

Gene: ATRX

Linked Data

• dbSNP Id: rs1298821881
• gnomAD v3: X-77652279-TTCC-T
• gnomAD v4: X-77652279-TTCC-T
• MyVariant Identifiers: chrX:g.77652280_77652282del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652288_77652290del , CM000685.2:g.77652288_77652290del	GRCh38
NC_000023.10:g.76907778_76907780del , CM000685.1:g.76907778_76907780del	GRCh37
NC_000023.9:g.76794434_76794436del	NCBI36
NG_008838.2:g.138940_138942del
NG_008838.3:g.138988_138990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4389_4391del MANE Select	ENSP00000362441.4:p.Glu1464del
ENST00000373344.9:c.4389_4391del	ENSP00000362441.4:p.Glu1464del
ENST00000395603.7:c.4275_4277del	ENSP00000378967.3:p.Glu1426del
ENST00000480283.5:c.*4017_*4019del	ENSP00000480196.1:n.*4017_*4019del
NM_000489.4:c.4389_4391del	NP_000480.3:p.Glu1464del
NM_138270.3:c.4275_4277del	NP_612114.2:p.Glu1426del
XM_005262153.3:c.4386_4388del	XP_005262210.2:p.Glu1463del
XM_005262154.3:c.4302_4304del	XP_005262211.2:p.Glu1435del
XM_005262155.3:c.4272_4274del	XP_005262212.2:p.Glu1425del
XM_005262156.3:c.4224_4226del	XP_005262213.2:p.Glu1409del
XM_005262157.3:c.4185_4187del	XP_005262214.2:p.Glu1396del
XM_006724666.2:c.4272_4274del	XP_006724729.1:p.Glu1425del
XM_006724667.2:c.4110_4112del	XP_006724730.1:p.Glu1371del
XM_006724668.2:c.4389_4391del	XP_006724731.1:p.Glu1464del
XR_938400.1:n.4657_4659del
NM_000489.5:c.4389_4391del	NP_000480.3:p.Glu1464del
XM_005262153.5:c.4386_4388del	XP_005262210.2:p.Glu1463del
XM_005262154.5:c.4302_4304del	XP_005262211.2:p.Glu1435del
XM_005262155.4:c.4272_4274del	XP_005262212.2:p.Glu1425del
XM_005262156.4:c.4224_4226del	XP_005262213.2:p.Glu1409del
XM_005262157.5:c.4185_4187del	XP_005262214.2:p.Glu1396del
XM_006724666.4:c.4272_4274del	XP_006724729.1:p.Glu1425del
XM_006724667.3:c.4110_4112del	XP_006724730.1:p.Glu1371del
XM_006724668.3:c.4389_4391del	XP_006724731.1:p.Glu1464del
XM_017029601.2:c.4299_4301del	XP_016885090.1:p.Glu1434del
XM_017029602.1:c.4269_4271del	XP_016885091.1:p.Glu1424del
XM_017029603.1:c.4221_4223del	XP_016885092.1:p.Glu1408del
XM_017029604.2:c.4188_4190del	XP_016885093.1:p.Glu1397del
XM_017029605.1:c.4185_4187del	XP_016885094.1:p.Glu1396del
XM_017029606.2:c.4158_4160del	XP_016885095.1:p.Glu1387del
XM_017029607.2:c.4155_4157del	XP_016885096.1:p.Glu1386del
XM_017029608.2:c.4107_4109del	XP_016885097.1:p.Glu1370del
XM_017029609.1:c.4071_4073del	XP_016885098.1:p.Glu1358del
XM_017029610.1:c.4068_4070del	XP_016885099.1:p.Glu1357del
XM_017029611.1:c.4023_4025del	XP_016885100.1:p.Glu1342del
XR_001755700.2:n.4614_4616del
NM_138270.4:c.4275_4277del	NP_612114.2:p.Glu1426del
NM_000489.6:c.4389_4391del MANE Select	NP_000480.3:p.Glu1464del
NM_138270.5:c.4275_4277del	NP_612114.2:p.Glu1426del