Canonical Allele Identifier: CA2580612367

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2571372
• ClinVar RCV Id: RCV003312773

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508438_77508460del , CM000685.2:g.77508438_77508460del	GRCh38
NC_000023.10:g.76763916_76763938del , CM000685.1:g.76763916_76763938del	GRCh37
NC_000023.9:g.76650572_76650594del	NCBI36
NG_008838.2:g.282763_282785del
NG_008838.3:g.282811_282833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7371_7393del MANE Select	ENSP00000362441.4:p.Gly2458TrpfsTer?
ENST00000675732.1:c.2469_2491del	ENSP00000502598.1:p.Gly824TrpfsTer?
ENST00000373344.9:c.7371_7393del	ENSP00000362441.4:p.Gly2458TrpfsTer?
ENST00000395603.7:c.7257_7279del	ENSP00000378967.3:p.Gly2420TrpfsTer?
ENST00000480283.5:c.*6999_*7021del	ENSP00000480196.1:n.*6999_*7021del
ENST00000623706.3:n.5691_5713del
NM_000489.4:c.7371_7393del	NP_000480.3:p.Gly2458TrpfsTer?
NM_138270.3:c.7257_7279del	NP_612114.2:p.Gly2420TrpfsTer?
XM_005262153.3:c.7368_7390del	XP_005262210.2:p.Gly2457TrpfsTer?
XM_005262154.3:c.7284_7306del	XP_005262211.2:p.Gly2429TrpfsTer?
XM_005262155.3:c.7254_7276del	XP_005262212.2:p.Gly2419TrpfsTer?
XM_005262156.3:c.7206_7228del	XP_005262213.2:p.Gly2403TrpfsTer?
XM_005262157.3:c.7167_7189del	XP_005262214.2:p.Gly2390TrpfsTer?
XM_006724666.2:c.7254_7276del	XP_006724729.1:p.Gly2419TrpfsTer?
XM_006724667.2:c.7092_7114del	XP_006724730.1:p.Gly2365TrpfsTer?
XR_938400.1:n.8963_8985del
NM_000489.5:c.7371_7393del	NP_000480.3:p.Gly2458TrpfsTer?
XM_005262153.5:c.7368_7390del	XP_005262210.2:p.Gly2457TrpfsTer?
XM_005262154.5:c.7284_7306del	XP_005262211.2:p.Gly2429TrpfsTer?
XM_005262155.4:c.7254_7276del	XP_005262212.2:p.Gly2419TrpfsTer?
XM_005262156.4:c.7206_7228del	XP_005262213.2:p.Gly2403TrpfsTer?
XM_005262157.5:c.7167_7189del	XP_005262214.2:p.Gly2390TrpfsTer?
XM_006724666.4:c.7254_7276del	XP_006724729.1:p.Gly2419TrpfsTer?
XM_006724667.3:c.7092_7114del	XP_006724730.1:p.Gly2365TrpfsTer?
XM_017029601.2:c.7281_7303del	XP_016885090.1:p.Gly2428TrpfsTer?
XM_017029602.1:c.7251_7273del	XP_016885091.1:p.Gly2418TrpfsTer?
XM_017029603.1:c.7203_7225del	XP_016885092.1:p.Gly2402TrpfsTer?
XM_017029604.2:c.7170_7192del	XP_016885093.1:p.Gly2391TrpfsTer?
XM_017029605.1:c.7167_7189del	XP_016885094.1:p.Gly2390TrpfsTer?
XM_017029606.2:c.7140_7162del	XP_016885095.1:p.Gly2381TrpfsTer?
XM_017029607.2:c.7137_7159del	XP_016885096.1:p.Gly2380TrpfsTer?
XM_017029608.2:c.7089_7111del	XP_016885097.1:p.Gly2364TrpfsTer?
XM_017029609.1:c.7053_7075del	XP_016885098.1:p.Gly2352TrpfsTer?
XM_017029610.1:c.7050_7072del	XP_016885099.1:p.Gly2351TrpfsTer?
XM_017029611.1:c.7005_7027del	XP_016885100.1:p.Gly2336TrpfsTer?
XR_001755700.2:n.7670_7692del
NM_138270.4:c.7257_7279del	NP_612114.2:p.Gly2420TrpfsTer?
NM_000489.6:c.7371_7393del MANE Select	NP_000480.3:p.Gly2458TrpfsTer?
NM_138270.5:c.7257_7279del	NP_612114.2:p.Gly2420TrpfsTer?