Canonical Allele Identifier: CA2438976897

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652297_77652309delinsCTCCTCCTCCTCT , CM000685.2:g.77652297_77652309delinsCTCCTCCTCCTCT	GRCh38
NC_000023.10:g.76907787_76907799delinsCTCCTCCTCCTCT , CM000685.1:g.76907787_76907799delinsCTCCTCCTCCTCT	GRCh37
NC_000023.9:g.76794443_76794455delinsCTCCTCCTCCTCT	NCBI36
NG_008838.2:g.138913_138925delinsAGAGGAGGAGGAG
NG_008838.3:g.138961_138973delinsAGAGGAGGAGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4362_4374delinsAGAGGAGGAGGAG MANE Select	ENSP00000362441.4:p.Glu1454=
ENST00000373344.9:c.4362_4374delinsAGAGGAGGAGGAG	ENSP00000362441.4:p.Glu1454=
ENST00000395603.7:c.4248_4260delinsAGAGGAGGAGGAG	ENSP00000378967.3:p.Glu1416=
ENST00000480283.5:c.*3990_*4002delinsAGAGGAGGAGGAG	ENSP00000480196.1:n.*3990_*4002delinsAGAGGAGGAGGAG
NM_000489.4:c.4362_4374delinsAGAGGAGGAGGAG	NP_000480.3:p.Glu1454=
NM_138270.3:c.4248_4260delinsAGAGGAGGAGGAG	NP_612114.2:p.Glu1416=
XM_005262153.3:c.4359_4371delinsAGAGGAGGAGGAG	XP_005262210.2:p.Glu1453=
XM_005262154.3:c.4275_4287delinsAGAGGAGGAGGAG	XP_005262211.2:p.Glu1425=
XM_005262155.3:c.4245_4257delinsAGAGGAGGAGGAG	XP_005262212.2:p.Glu1415=
XM_005262156.3:c.4197_4209delinsAGAGGAGGAGGAG	XP_005262213.2:p.Glu1399=
XM_005262157.3:c.4158_4170delinsAGAGGAGGAGGAG	XP_005262214.2:p.Glu1386=
XM_006724666.2:c.4245_4257delinsAGAGGAGGAGGAG	XP_006724729.1:p.Glu1415=
XM_006724667.2:c.4083_4095delinsAGAGGAGGAGGAG	XP_006724730.1:p.Glu1361=
XM_006724668.2:c.4362_4374delinsAGAGGAGGAGGAG	XP_006724731.1:p.Glu1454=
XR_938400.1:n.4630_4642delinsAGAGGAGGAGGAG
NM_000489.5:c.4362_4374delinsAGAGGAGGAGGAG	NP_000480.3:p.Glu1454=
XM_005262153.5:c.4359_4371delinsAGAGGAGGAGGAG	XP_005262210.2:p.Glu1453=
XM_005262154.5:c.4275_4287delinsAGAGGAGGAGGAG	XP_005262211.2:p.Glu1425=
XM_005262155.4:c.4245_4257delinsAGAGGAGGAGGAG	XP_005262212.2:p.Glu1415=
XM_005262156.4:c.4197_4209delinsAGAGGAGGAGGAG	XP_005262213.2:p.Glu1399=
XM_005262157.5:c.4158_4170delinsAGAGGAGGAGGAG	XP_005262214.2:p.Glu1386=
XM_006724666.4:c.4245_4257delinsAGAGGAGGAGGAG	XP_006724729.1:p.Glu1415=
XM_006724667.3:c.4083_4095delinsAGAGGAGGAGGAG	XP_006724730.1:p.Glu1361=
XM_006724668.3:c.4362_4374delinsAGAGGAGGAGGAG	XP_006724731.1:p.Glu1454=
XM_017029601.2:c.4272_4284delinsAGAGGAGGAGGAG	XP_016885090.1:p.Glu1424=
XM_017029602.1:c.4242_4254delinsAGAGGAGGAGGAG	XP_016885091.1:p.Glu1414=
XM_017029603.1:c.4194_4206delinsAGAGGAGGAGGAG	XP_016885092.1:p.Glu1398=
XM_017029604.2:c.4161_4173delinsAGAGGAGGAGGAG	XP_016885093.1:p.Glu1387=
XM_017029605.1:c.4158_4170delinsAGAGGAGGAGGAG	XP_016885094.1:p.Glu1386=
XM_017029606.2:c.4131_4143delinsAGAGGAGGAGGAG	XP_016885095.1:p.Glu1377=
XM_017029607.2:c.4128_4140delinsAGAGGAGGAGGAG	XP_016885096.1:p.Glu1376=
XM_017029608.2:c.4080_4092delinsAGAGGAGGAGGAG	XP_016885097.1:p.Glu1360=
XM_017029609.1:c.4044_4056delinsAGAGGAGGAGGAG	XP_016885098.1:p.Glu1348=
XM_017029610.1:c.4041_4053delinsAGAGGAGGAGGAG	XP_016885099.1:p.Glu1347=
XM_017029611.1:c.3996_4008delinsAGAGGAGGAGGAG	XP_016885100.1:p.Glu1332=
XR_001755700.2:n.4587_4599delinsAGAGGAGGAGGAG
NM_138270.4:c.4248_4260delinsAGAGGAGGAGGAG	NP_612114.2:p.Glu1416=
NM_000489.6:c.4362_4374delinsAGAGGAGGAGGAG MANE Select	NP_000480.3:p.Glu1454=
NM_138270.5:c.4248_4260delinsAGAGGAGGAGGAG	NP_612114.2:p.Glu1416=