Canonical Allele Identifier: CA642693657

Gene: ATRX

Linked Data

• dbSNP Id: rs1357067375
• gnomAD v2: X-76829876-C-CT
• gnomAD v3: X-77574411-C-CT
• gnomAD v4: X-77574411-C-CT
• MyVariant Identifiers: chrX:g.76829876_76829877insT (hg19) ; chrX:g.77574411_77574412insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574412dup , CM000685.2:g.77574412dup	GRCh38
NC_000023.10:g.76829877dup , CM000685.1:g.76829877dup	GRCh37
NC_000023.9:g.76716533dup	NCBI36
NG_008838.2:g.216810dup
NG_008838.3:g.216858dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6218-54dup MANE Select	ENSP00000362441.4:n.6218-54dup
ENST00000636152.1:n.53-54dup
ENST00000675732.1:c.1316-54dup	ENSP00000502598.1:n.1316-54dup
ENST00000373344.9:c.6218-54dup	ENSP00000362441.4:n.6218-54dup
ENST00000395603.7:c.6104-54dup	ENSP00000378967.3:n.6104-54dup
ENST00000480283.5:c.*5846-54dup	ENSP00000480196.1:n.*5846-54dup
ENST00000623316.1:c.702-54dup
ENST00000623706.3:n.3288-54dup
NM_000489.4:c.6218-54dup	NP_000480.3:n.6218-54dup
NM_138270.3:c.6104-54dup	NP_612114.2:n.6104-54dup
XM_005262153.3:c.6215-54dup	XP_005262210.2:n.6215-54dup
XM_005262154.3:c.6131-54dup	XP_005262211.2:n.6131-54dup
XM_005262155.3:c.6101-54dup	XP_005262212.2:n.6101-54dup
XM_005262156.3:c.6053-54dup	XP_005262213.2:n.6053-54dup
XM_005262157.3:c.6014-54dup	XP_005262214.2:n.6014-54dup
XM_006724666.2:c.6101-54dup	XP_006724729.1:n.6101-54dup
XM_006724667.2:c.5939-54dup	XP_006724730.1:n.5939-54dup
XR_938400.1:n.6560-54dup
NM_000489.5:c.6218-54dup	NP_000480.3:n.6218-54dup
XM_005262153.5:c.6215-54dup	XP_005262210.2:n.6215-54dup
XM_005262154.5:c.6131-54dup	XP_005262211.2:n.6131-54dup
XM_005262155.4:c.6101-54dup	XP_005262212.2:n.6101-54dup
XM_005262156.4:c.6053-54dup	XP_005262213.2:n.6053-54dup
XM_005262157.5:c.6014-54dup	XP_005262214.2:n.6014-54dup
XM_006724666.4:c.6101-54dup	XP_006724729.1:n.6101-54dup
XM_006724667.3:c.5939-54dup	XP_006724730.1:n.5939-54dup
XM_017029601.2:c.6128-54dup	XP_016885090.1:n.6128-54dup
XM_017029602.1:c.6098-54dup	XP_016885091.1:n.6098-54dup
XM_017029603.1:c.6050-54dup	XP_016885092.1:n.6050-54dup
XM_017029604.2:c.6017-54dup	XP_016885093.1:n.6017-54dup
XM_017029605.1:c.6014-54dup	XP_016885094.1:n.6014-54dup
XM_017029606.2:c.5987-54dup	XP_016885095.1:n.5987-54dup
XM_017029607.2:c.5984-54dup	XP_016885096.1:n.5984-54dup
XM_017029608.2:c.5936-54dup	XP_016885097.1:n.5936-54dup
XM_017029609.1:c.5900-54dup	XP_016885098.1:n.5900-54dup
XM_017029610.1:c.5897-54dup	XP_016885099.1:n.5897-54dup
XM_017029611.1:c.5852-54dup	XP_016885100.1:n.5852-54dup
XR_001755700.2:n.6517-54dup
NM_138270.4:c.6104-54dup	NP_612114.2:n.6104-54dup
NM_000489.6:c.6218-54dup MANE Select	NP_000480.3:n.6218-54dup
NM_138270.5:c.6104-54dup	NP_612114.2:n.6104-54dup