Canonical Allele Identifier: CA2738724212

Gene: ATRX

Linked Data

• dbSNP Id: rs2147648607

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508477del , CM000685.2:g.77508477del	GRCh38
NC_000023.10:g.76763955del , CM000685.1:g.76763955del	GRCh37
NC_000023.9:g.76650611del	NCBI36
NG_008838.2:g.282746del
NG_008838.3:g.282794del

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7354del MANE Select	ENSP00000362441.4:p.Gln2452SerfsTer5
ENST00000675732.1:c.2452del	ENSP00000502598.1:p.Gln818SerfsTer5
ENST00000373344.9:c.7354del	ENSP00000362441.4:p.Gln2452SerfsTer5
ENST00000395603.7:c.7240del	ENSP00000378967.3:p.Gln2414SerfsTer5
ENST00000480283.5:c.*6982del	ENSP00000480196.1:n.*6982del
ENST00000623706.3:n.5674del
NM_000489.4:c.7354del	NP_000480.3:p.Gln2452SerfsTer5
NM_138270.3:c.7240del	NP_612114.2:p.Gln2414SerfsTer5
XM_005262153.3:c.7351del	XP_005262210.2:p.Gln2451SerfsTer5
XM_005262154.3:c.7267del	XP_005262211.2:p.Gln2423SerfsTer5
XM_005262155.3:c.7237del	XP_005262212.2:p.Gln2413SerfsTer5
XM_005262156.3:c.7189del	XP_005262213.2:p.Gln2397SerfsTer5
XM_005262157.3:c.7150del	XP_005262214.2:p.Gln2384SerfsTer5
XM_006724666.2:c.7237del	XP_006724729.1:p.Gln2413SerfsTer5
XM_006724667.2:c.7075del	XP_006724730.1:p.Gln2359SerfsTer5
XR_938400.1:n.8946del
NM_000489.5:c.7354del	NP_000480.3:p.Gln2452SerfsTer5
XM_005262153.5:c.7351del	XP_005262210.2:p.Gln2451SerfsTer5
XM_005262154.5:c.7267del	XP_005262211.2:p.Gln2423SerfsTer5
XM_005262155.4:c.7237del	XP_005262212.2:p.Gln2413SerfsTer5
XM_005262156.4:c.7189del	XP_005262213.2:p.Gln2397SerfsTer5
XM_005262157.5:c.7150del	XP_005262214.2:p.Gln2384SerfsTer5
XM_006724666.4:c.7237del	XP_006724729.1:p.Gln2413SerfsTer5
XM_006724667.3:c.7075del	XP_006724730.1:p.Gln2359SerfsTer5
XM_017029601.2:c.7264del	XP_016885090.1:p.Gln2422SerfsTer5
XM_017029602.1:c.7234del	XP_016885091.1:p.Gln2412SerfsTer5
XM_017029603.1:c.7186del	XP_016885092.1:p.Gln2396SerfsTer5
XM_017029604.2:c.7153del	XP_016885093.1:p.Gln2385SerfsTer5
XM_017029605.1:c.7150del	XP_016885094.1:p.Gln2384SerfsTer5
XM_017029606.2:c.7123del	XP_016885095.1:p.Gln2375SerfsTer5
XM_017029607.2:c.7120del	XP_016885096.1:p.Gln2374SerfsTer5
XM_017029608.2:c.7072del	XP_016885097.1:p.Gln2358SerfsTer5
XM_017029609.1:c.7036del	XP_016885098.1:p.Gln2346SerfsTer5
XM_017029610.1:c.7033del	XP_016885099.1:p.Gln2345SerfsTer5
XM_017029611.1:c.6988del	XP_016885100.1:p.Gln2330SerfsTer5
XR_001755700.2:n.7653del
NM_138270.4:c.7240del	NP_612114.2:p.Gln2414SerfsTer5
NM_000489.6:c.7354del MANE Select	NP_000480.3:p.Gln2452SerfsTer5
NM_138270.5:c.7240del	NP_612114.2:p.Gln2414SerfsTer5