Canonical Allele Identifier: CA221006

Gene: ATRX

Linked Data

• ClinVar Variation Id: 93147
• ClinVar RCV Id: RCV000078973
• dbSNP Id: rs398123428
• MyVariant Identifiers: chrX:g.76763914del (hg19) ; chrX:g.76763914delC (hg19) ; chrX:g.77508436del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508437del , CM000685.2:g.77508437del	GRCh38
NC_000023.10:g.76763915del , CM000685.1:g.76763915del	GRCh37
NC_000023.9:g.76650571del	NCBI36
NG_008838.2:g.282786del
NG_008838.3:g.282834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7394del MANE Select	ENSP00000362441.4:p.Gly2465ValfsTer15
ENST00000675732.1:c.2492del	ENSP00000502598.1:p.Gly831ValfsTer15
ENST00000373344.9:c.7394del	ENSP00000362441.4:p.Gly2465ValfsTer15
ENST00000395603.7:c.7280del	ENSP00000378967.3:p.Gly2427ValfsTer15
ENST00000480283.5:c.*7022del	ENSP00000480196.1:n.*7022del
ENST00000623706.3:n.5714del
NM_000489.4:c.7394del	NP_000480.3:p.Gly2465ValfsTer15
NM_138270.3:c.7280del	NP_612114.2:p.Gly2427ValfsTer15
XM_005262153.3:c.7391del	XP_005262210.2:p.Gly2464ValfsTer15
XM_005262154.3:c.7307del	XP_005262211.2:p.Gly2436ValfsTer15
XM_005262155.3:c.7277del	XP_005262212.2:p.Gly2426ValfsTer15
XM_005262156.3:c.7229del	XP_005262213.2:p.Gly2410ValfsTer15
XM_005262157.3:c.7190del	XP_005262214.2:p.Gly2397ValfsTer15
XM_006724666.2:c.7277del	XP_006724729.1:p.Gly2426ValfsTer15
XM_006724667.2:c.7115del	XP_006724730.1:p.Gly2372ValfsTer15
XR_938400.1:n.8986del
NM_000489.5:c.7394del	NP_000480.3:p.Gly2465ValfsTer15
XM_005262153.5:c.7391del	XP_005262210.2:p.Gly2464ValfsTer15
XM_005262154.5:c.7307del	XP_005262211.2:p.Gly2436ValfsTer15
XM_005262155.4:c.7277del	XP_005262212.2:p.Gly2426ValfsTer15
XM_005262156.4:c.7229del	XP_005262213.2:p.Gly2410ValfsTer15
XM_005262157.5:c.7190del	XP_005262214.2:p.Gly2397ValfsTer15
XM_006724666.4:c.7277del	XP_006724729.1:p.Gly2426ValfsTer15
XM_006724667.3:c.7115del	XP_006724730.1:p.Gly2372ValfsTer15
XM_017029601.2:c.7304del	XP_016885090.1:p.Gly2435ValfsTer15
XM_017029602.1:c.7274del	XP_016885091.1:p.Gly2425ValfsTer15
XM_017029603.1:c.7226del	XP_016885092.1:p.Gly2409ValfsTer15
XM_017029604.2:c.7193del	XP_016885093.1:p.Gly2398ValfsTer15
XM_017029605.1:c.7190del	XP_016885094.1:p.Gly2397ValfsTer15
XM_017029606.2:c.7163del	XP_016885095.1:p.Gly2388ValfsTer15
XM_017029607.2:c.7160del	XP_016885096.1:p.Gly2387ValfsTer15
XM_017029608.2:c.7112del	XP_016885097.1:p.Gly2371ValfsTer15
XM_017029609.1:c.7076del	XP_016885098.1:p.Gly2359ValfsTer15
XM_017029610.1:c.7073del	XP_016885099.1:p.Gly2358ValfsTer15
XM_017029611.1:c.7028del	XP_016885100.1:p.Gly2343ValfsTer15
XR_001755700.2:n.7693del
NM_138270.4:c.7280del	NP_612114.2:p.Gly2427ValfsTer15
NM_000489.6:c.7394del MANE Select	NP_000480.3:p.Gly2465ValfsTer15
NM_138270.5:c.7280del	NP_612114.2:p.Gly2427ValfsTer15