Canonical Allele Identifier: CA10457416

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1532446
• ClinVar RCV Id: RCV002102082
• dbSNP Id: rs782698877
• ExAC: X:76776243 TAGTC / T
• gnomAD v2: X-76776243-TAGTC-T
• gnomAD v3: X-77520765-TAGTC-T
• gnomAD v4: X-77520765-TAGTC-T
• MyVariant Identifiers: chrX:g.76776244_76776247del (hg19) ; chrX:g.77520766_77520769del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520768_77520771del , CM000685.2:g.77520768_77520771del	GRCh38
NC_000023.10:g.76776246_76776249del , CM000685.1:g.76776246_76776249del	GRCh37
NC_000023.9:g.76662902_76662905del	NCBI36
NG_008838.2:g.270453_270456del
NG_008838.3:g.270501_270504del

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7200+19_7200+22del MANE Select	ENSP00000362441.4:n.7200+19_7200+22del
ENST00000675732.1:c.2298+19_2298+22del	ENSP00000502598.1:n.2298+19_2298+22del
ENST00000373344.9:c.7200+19_7200+22del	ENSP00000362441.4:n.7200+19_7200+22del
ENST00000395603.7:c.7086+19_7086+22del	ENSP00000378967.3:n.7086+19_7086+22del
ENST00000480283.5:c.*6828+19_*6828+22del	ENSP00000480196.1:n.*6828+19_*6828+22del
ENST00000623706.3:n.5520+19_5520+22del
ENST00000624766.1:n.431+19_431+22del
NM_000489.4:c.7200+19_7200+22del	NP_000480.3:n.7200+19_7200+22del
NM_138270.3:c.7086+19_7086+22del	NP_612114.2:n.7086+19_7086+22del
XM_005262153.3:c.7197+19_7197+22del	XP_005262210.2:n.7197+19_7197+22del
XM_005262154.3:c.7113+19_7113+22del	XP_005262211.2:n.7113+19_7113+22del
XM_005262155.3:c.7083+19_7083+22del	XP_005262212.2:n.7083+19_7083+22del
XM_005262156.3:c.7035+19_7035+22del	XP_005262213.2:n.7035+19_7035+22del
XM_005262157.3:c.6996+19_6996+22del	XP_005262214.2:n.6996+19_6996+22del
XM_006724666.2:c.7083+19_7083+22del	XP_006724729.1:n.7083+19_7083+22del
XM_006724667.2:c.6921+19_6921+22del	XP_006724730.1:n.6921+19_6921+22del
XR_938400.1:n.8792+19_8792+22del
NM_000489.5:c.7200+19_7200+22del	NP_000480.3:n.7200+19_7200+22del
XM_005262153.5:c.7197+19_7197+22del	XP_005262210.2:n.7197+19_7197+22del
XM_005262154.5:c.7113+19_7113+22del	XP_005262211.2:n.7113+19_7113+22del
XM_005262155.4:c.7083+19_7083+22del	XP_005262212.2:n.7083+19_7083+22del
XM_005262156.4:c.7035+19_7035+22del	XP_005262213.2:n.7035+19_7035+22del
XM_005262157.5:c.6996+19_6996+22del	XP_005262214.2:n.6996+19_6996+22del
XM_006724666.4:c.7083+19_7083+22del	XP_006724729.1:n.7083+19_7083+22del
XM_006724667.3:c.6921+19_6921+22del	XP_006724730.1:n.6921+19_6921+22del
XM_017029601.2:c.7110+19_7110+22del	XP_016885090.1:n.7110+19_7110+22del
XM_017029602.1:c.7080+19_7080+22del	XP_016885091.1:n.7080+19_7080+22del
XM_017029603.1:c.7032+19_7032+22del	XP_016885092.1:n.7032+19_7032+22del
XM_017029604.2:c.6999+19_6999+22del	XP_016885093.1:n.6999+19_6999+22del
XM_017029605.1:c.6996+19_6996+22del	XP_016885094.1:n.6996+19_6996+22del
XM_017029606.2:c.6969+19_6969+22del	XP_016885095.1:n.6969+19_6969+22del
XM_017029607.2:c.6966+19_6966+22del	XP_016885096.1:n.6966+19_6966+22del
XM_017029608.2:c.6918+19_6918+22del	XP_016885097.1:n.6918+19_6918+22del
XM_017029609.1:c.6882+19_6882+22del	XP_016885098.1:n.6882+19_6882+22del
XM_017029610.1:c.6879+19_6879+22del	XP_016885099.1:n.6879+19_6879+22del
XM_017029611.1:c.6834+19_6834+22del	XP_016885100.1:n.6834+19_6834+22del
XR_001755700.2:n.7499+19_7499+22del
NM_138270.4:c.7086+19_7086+22del	NP_612114.2:n.7086+19_7086+22del
NM_000489.6:c.7200+19_7200+22del MANE Select	NP_000480.3:n.7200+19_7200+22del
NM_138270.5:c.7086+19_7086+22del	NP_612114.2:n.7086+19_7086+22del