Canonical Allele Identifier: CA2438976850

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652276_77652288delinsATCTTCCTCCTCC , CM000685.2:g.77652276_77652288delinsATCTTCCTCCTCC	GRCh38
NC_000023.10:g.76907766_76907778delinsATCTTCCTCCTCC , CM000685.1:g.76907766_76907778delinsATCTTCCTCCTCC	GRCh37
NC_000023.9:g.76794422_76794434delinsATCTTCCTCCTCC	NCBI36
NG_008838.2:g.138934_138946delinsGGAGGAGGAAGAT
NG_008838.3:g.138982_138994delinsGGAGGAGGAAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4383_4395delinsGGAGGAGGAAGAT MANE Select	ENSP00000362441.4:p.Glu1461=
ENST00000373344.9:c.4383_4395delinsGGAGGAGGAAGAT	ENSP00000362441.4:p.Glu1461=
ENST00000395603.7:c.4269_4281delinsGGAGGAGGAAGAT	ENSP00000378967.3:p.Glu1423=
ENST00000480283.5:c.*4011_*4023delinsGGAGGAGGAAGAT	ENSP00000480196.1:n.*4011_*4023delinsGGAGGAGGAAGAT
NM_000489.4:c.4383_4395delinsGGAGGAGGAAGAT	NP_000480.3:p.Glu1461=
NM_138270.3:c.4269_4281delinsGGAGGAGGAAGAT	NP_612114.2:p.Glu1423=
XM_005262153.3:c.4380_4392delinsGGAGGAGGAAGAT	XP_005262210.2:p.Glu1460=
XM_005262154.3:c.4296_4308delinsGGAGGAGGAAGAT	XP_005262211.2:p.Glu1432=
XM_005262155.3:c.4266_4278delinsGGAGGAGGAAGAT	XP_005262212.2:p.Glu1422=
XM_005262156.3:c.4218_4230delinsGGAGGAGGAAGAT	XP_005262213.2:p.Glu1406=
XM_005262157.3:c.4179_4191delinsGGAGGAGGAAGAT	XP_005262214.2:p.Glu1393=
XM_006724666.2:c.4266_4278delinsGGAGGAGGAAGAT	XP_006724729.1:p.Glu1422=
XM_006724667.2:c.4104_4116delinsGGAGGAGGAAGAT	XP_006724730.1:p.Glu1368=
XM_006724668.2:c.4383_4395delinsGGAGGAGGAAGAT	XP_006724731.1:p.Glu1461=
XR_938400.1:n.4651_4663delinsGGAGGAGGAAGAT
NM_000489.5:c.4383_4395delinsGGAGGAGGAAGAT	NP_000480.3:p.Glu1461=
XM_005262153.5:c.4380_4392delinsGGAGGAGGAAGAT	XP_005262210.2:p.Glu1460=
XM_005262154.5:c.4296_4308delinsGGAGGAGGAAGAT	XP_005262211.2:p.Glu1432=
XM_005262155.4:c.4266_4278delinsGGAGGAGGAAGAT	XP_005262212.2:p.Glu1422=
XM_005262156.4:c.4218_4230delinsGGAGGAGGAAGAT	XP_005262213.2:p.Glu1406=
XM_005262157.5:c.4179_4191delinsGGAGGAGGAAGAT	XP_005262214.2:p.Glu1393=
XM_006724666.4:c.4266_4278delinsGGAGGAGGAAGAT	XP_006724729.1:p.Glu1422=
XM_006724667.3:c.4104_4116delinsGGAGGAGGAAGAT	XP_006724730.1:p.Glu1368=
XM_006724668.3:c.4383_4395delinsGGAGGAGGAAGAT	XP_006724731.1:p.Glu1461=
XM_017029601.2:c.4293_4305delinsGGAGGAGGAAGAT	XP_016885090.1:p.Glu1431=
XM_017029602.1:c.4263_4275delinsGGAGGAGGAAGAT	XP_016885091.1:p.Glu1421=
XM_017029603.1:c.4215_4227delinsGGAGGAGGAAGAT	XP_016885092.1:p.Glu1405=
XM_017029604.2:c.4182_4194delinsGGAGGAGGAAGAT	XP_016885093.1:p.Glu1394=
XM_017029605.1:c.4179_4191delinsGGAGGAGGAAGAT	XP_016885094.1:p.Glu1393=
XM_017029606.2:c.4152_4164delinsGGAGGAGGAAGAT	XP_016885095.1:p.Glu1384=
XM_017029607.2:c.4149_4161delinsGGAGGAGGAAGAT	XP_016885096.1:p.Glu1383=
XM_017029608.2:c.4101_4113delinsGGAGGAGGAAGAT	XP_016885097.1:p.Glu1367=
XM_017029609.1:c.4065_4077delinsGGAGGAGGAAGAT	XP_016885098.1:p.Glu1355=
XM_017029610.1:c.4062_4074delinsGGAGGAGGAAGAT	XP_016885099.1:p.Glu1354=
XM_017029611.1:c.4017_4029delinsGGAGGAGGAAGAT	XP_016885100.1:p.Glu1339=
XR_001755700.2:n.4608_4620delinsGGAGGAGGAAGAT
NM_138270.4:c.4269_4281delinsGGAGGAGGAAGAT	NP_612114.2:p.Glu1423=
NM_000489.6:c.4383_4395delinsGGAGGAGGAAGAT MANE Select	NP_000480.3:p.Glu1461=
NM_138270.5:c.4269_4281delinsGGAGGAGGAAGAT	NP_612114.2:p.Glu1423=