Canonical Allele Identifier: CA658659018

Gene: ATRX

Linked Data

• ClinVar Variation Id: 446888
• ClinVar RCV Id: RCV000517844 ; RCV000554980
• dbSNP Id: rs1557117424
• MyVariant Identifiers: chrX:g.76907803_76907814del (hg19) ; chrX:g.77652313_77652324del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652314_77652325del , CM000685.2:g.77652314_77652325del	GRCh38
NC_000023.10:g.76907804_76907815del , CM000685.1:g.76907804_76907815del	GRCh37
NC_000023.9:g.76794460_76794471del	NCBI36
NG_008838.2:g.138898_138909del
NG_008838.3:g.138946_138957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4347_4358del MANE Select	ENSP00000362441.4:p.Glu1450_Glu1453del
ENST00000373344.9:c.4347_4358del	ENSP00000362441.4:p.Glu1450_Glu1453del
ENST00000395603.7:c.4233_4244del	ENSP00000378967.3:p.Glu1412_Glu1415del
ENST00000480283.5:c.*3975_*3986del	ENSP00000480196.1:n.*3975_*3986del
NM_000489.4:c.4347_4358del	NP_000480.3:p.Glu1450_Glu1453del
NM_138270.3:c.4233_4244del	NP_612114.2:p.Glu1412_Glu1415del
XM_005262153.3:c.4344_4355del	XP_005262210.2:p.Glu1449_Glu1452del
XM_005262154.3:c.4260_4271del	XP_005262211.2:p.Glu1421_Glu1424del
XM_005262155.3:c.4230_4241del	XP_005262212.2:p.Glu1411_Glu1414del
XM_005262156.3:c.4182_4193del	XP_005262213.2:p.Glu1395_Glu1398del
XM_005262157.3:c.4143_4154del	XP_005262214.2:p.Glu1382_Glu1385del
XM_006724666.2:c.4230_4241del	XP_006724729.1:p.Glu1411_Glu1414del
XM_006724667.2:c.4068_4079del	XP_006724730.1:p.Glu1357_Glu1360del
XM_006724668.2:c.4347_4358del	XP_006724731.1:p.Glu1450_Glu1453del
XR_938400.1:n.4615_4626del
NM_000489.5:c.4347_4358del	NP_000480.3:p.Glu1450_Glu1453del
XM_005262153.5:c.4344_4355del	XP_005262210.2:p.Glu1449_Glu1452del
XM_005262154.5:c.4260_4271del	XP_005262211.2:p.Glu1421_Glu1424del
XM_005262155.4:c.4230_4241del	XP_005262212.2:p.Glu1411_Glu1414del
XM_005262156.4:c.4182_4193del	XP_005262213.2:p.Glu1395_Glu1398del
XM_005262157.5:c.4143_4154del	XP_005262214.2:p.Glu1382_Glu1385del
XM_006724666.4:c.4230_4241del	XP_006724729.1:p.Glu1411_Glu1414del
XM_006724667.3:c.4068_4079del	XP_006724730.1:p.Glu1357_Glu1360del
XM_006724668.3:c.4347_4358del	XP_006724731.1:p.Glu1450_Glu1453del
XM_017029601.2:c.4257_4268del	XP_016885090.1:p.Glu1420_Glu1423del
XM_017029602.1:c.4227_4238del	XP_016885091.1:p.Glu1410_Glu1413del
XM_017029603.1:c.4179_4190del	XP_016885092.1:p.Glu1394_Glu1397del
XM_017029604.2:c.4146_4157del	XP_016885093.1:p.Glu1383_Glu1386del
XM_017029605.1:c.4143_4154del	XP_016885094.1:p.Glu1382_Glu1385del
XM_017029606.2:c.4116_4127del	XP_016885095.1:p.Glu1373_Glu1376del
XM_017029607.2:c.4113_4124del	XP_016885096.1:p.Glu1372_Glu1375del
XM_017029608.2:c.4065_4076del	XP_016885097.1:p.Glu1356_Glu1359del
XM_017029609.1:c.4029_4040del	XP_016885098.1:p.Glu1344_Glu1347del
XM_017029610.1:c.4026_4037del	XP_016885099.1:p.Glu1343_Glu1346del
XM_017029611.1:c.3981_3992del	XP_016885100.1:p.Glu1328_Glu1331del
XR_001755700.2:n.4572_4583del
NM_138270.4:c.4233_4244del	NP_612114.2:p.Glu1412_Glu1415del
NM_000489.6:c.4347_4358del MANE Select	NP_000480.3:p.Glu1450_Glu1453del
NM_138270.5:c.4233_4244del	NP_612114.2:p.Glu1412_Glu1415del