Canonical Allele Identifier: CA878453053

Gene: ATRX

Linked Data

• dbSNP Id: rs1448387572
• gnomAD v3: X-77508538-GC-G
• gnomAD v4: X-77508538-GC-G
• MyVariant Identifiers: chrX:g.77508539del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508539del , CM000685.2:g.77508539del	GRCh38
NC_000023.10:g.76764017del , CM000685.1:g.76764017del	GRCh37
NC_000023.9:g.76650673del	NCBI36
NG_008838.2:g.282683del
NG_008838.3:g.282731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7291del MANE Select	ENSP00000362441.4:p.Ala2431GlnfsTer7
ENST00000675732.1:c.2389del	ENSP00000502598.1:p.Ala797GlnfsTer7
ENST00000373344.9:c.7291del	ENSP00000362441.4:p.Ala2431GlnfsTer7
ENST00000395603.7:c.7177del	ENSP00000378967.3:p.Ala2393GlnfsTer7
ENST00000480283.5:c.*6919del	ENSP00000480196.1:n.*6919del
ENST00000623706.3:n.5611del
ENST00000624766.1:n.522del
NM_000489.4:c.7291del	NP_000480.3:p.Ala2431GlnfsTer7
NM_138270.3:c.7177del	NP_612114.2:p.Ala2393GlnfsTer7
XM_005262153.3:c.7288del	XP_005262210.2:p.Ala2430GlnfsTer7
XM_005262154.3:c.7204del	XP_005262211.2:p.Ala2402GlnfsTer7
XM_005262155.3:c.7174del	XP_005262212.2:p.Ala2392GlnfsTer7
XM_005262156.3:c.7126del	XP_005262213.2:p.Ala2376GlnfsTer7
XM_005262157.3:c.7087del	XP_005262214.2:p.Ala2363GlnfsTer7
XM_006724666.2:c.7174del	XP_006724729.1:p.Ala2392GlnfsTer7
XM_006724667.2:c.7012del	XP_006724730.1:p.Ala2338GlnfsTer7
XR_938400.1:n.8883del
NM_000489.5:c.7291del	NP_000480.3:p.Ala2431GlnfsTer7
XM_005262153.5:c.7288del	XP_005262210.2:p.Ala2430GlnfsTer7
XM_005262154.5:c.7204del	XP_005262211.2:p.Ala2402GlnfsTer7
XM_005262155.4:c.7174del	XP_005262212.2:p.Ala2392GlnfsTer7
XM_005262156.4:c.7126del	XP_005262213.2:p.Ala2376GlnfsTer7
XM_005262157.5:c.7087del	XP_005262214.2:p.Ala2363GlnfsTer7
XM_006724666.4:c.7174del	XP_006724729.1:p.Ala2392GlnfsTer7
XM_006724667.3:c.7012del	XP_006724730.1:p.Ala2338GlnfsTer7
XM_017029601.2:c.7201del	XP_016885090.1:p.Ala2401GlnfsTer7
XM_017029602.1:c.7171del	XP_016885091.1:p.Ala2391GlnfsTer7
XM_017029603.1:c.7123del	XP_016885092.1:p.Ala2375GlnfsTer7
XM_017029604.2:c.7090del	XP_016885093.1:p.Ala2364GlnfsTer7
XM_017029605.1:c.7087del	XP_016885094.1:p.Ala2363GlnfsTer7
XM_017029606.2:c.7060del	XP_016885095.1:p.Ala2354GlnfsTer7
XM_017029607.2:c.7057del	XP_016885096.1:p.Ala2353GlnfsTer7
XM_017029608.2:c.7009del	XP_016885097.1:p.Ala2337GlnfsTer7
XM_017029609.1:c.6973del	XP_016885098.1:p.Ala2325GlnfsTer7
XM_017029610.1:c.6970del	XP_016885099.1:p.Ala2324GlnfsTer7
XM_017029611.1:c.6925del	XP_016885100.1:p.Ala2309GlnfsTer7
XR_001755700.2:n.7590del
NM_138270.4:c.7177del	NP_612114.2:p.Ala2393GlnfsTer7
NM_000489.6:c.7291del MANE Select	NP_000480.3:p.Ala2431GlnfsTer7
NM_138270.5:c.7177del	NP_612114.2:p.Ala2393GlnfsTer7