Canonical Allele Identifier: CA2695234705
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508565_77508566insA , CM000685.2:g.77508565_77508566insA GRCh38
NC_000023.10:g.76764043_76764044insA , CM000685.1:g.76764043_76764044insA GRCh37
NC_000023.9:g.76650699_76650700insA NCBI36
NG_008838.2:g.282656_282657insT
NG_008838.3:g.282704_282705insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7264_7265insT MANE Select ENSP00000362441.4:p.Gln2422LeufsTer29
ENST00000675732.1:c.2362_2363insT ENSP00000502598.1:p.Gln788LeufsTer29
ENST00000373344.9:c.7264_7265insT ENSP00000362441.4:p.Gln2422LeufsTer29
ENST00000395603.7:c.7150_7151insT ENSP00000378967.3:p.Gln2384LeufsTer29
ENST00000480283.5:c.*6892_*6893insT ENSP00000480196.1:n.*6892_*6893insT
ENST00000623706.3:n.5584_5585insT
ENST00000624766.1:n.495_496insT
NM_000489.4:c.7264_7265insT NP_000480.3:p.Gln2422LeufsTer29
NM_138270.3:c.7150_7151insT NP_612114.2:p.Gln2384LeufsTer29
XM_005262153.3:c.7261_7262insT XP_005262210.2:p.Gln2421LeufsTer29
XM_005262154.3:c.7177_7178insT XP_005262211.2:p.Gln2393LeufsTer29
XM_005262155.3:c.7147_7148insT XP_005262212.2:p.Gln2383LeufsTer29
XM_005262156.3:c.7099_7100insT XP_005262213.2:p.Gln2367LeufsTer29
XM_005262157.3:c.7060_7061insT XP_005262214.2:p.Gln2354LeufsTer29
XM_006724666.2:c.7147_7148insT XP_006724729.1:p.Gln2383LeufsTer29
XM_006724667.2:c.6985_6986insT XP_006724730.1:p.Gln2329LeufsTer29
XR_938400.1:n.8856_8857insT
NM_000489.5:c.7264_7265insT NP_000480.3:p.Gln2422LeufsTer29
XM_005262153.5:c.7261_7262insT XP_005262210.2:p.Gln2421LeufsTer29
XM_005262154.5:c.7177_7178insT XP_005262211.2:p.Gln2393LeufsTer29
XM_005262155.4:c.7147_7148insT XP_005262212.2:p.Gln2383LeufsTer29
XM_005262156.4:c.7099_7100insT XP_005262213.2:p.Gln2367LeufsTer29
XM_005262157.5:c.7060_7061insT XP_005262214.2:p.Gln2354LeufsTer29
XM_006724666.4:c.7147_7148insT XP_006724729.1:p.Gln2383LeufsTer29
XM_006724667.3:c.6985_6986insT XP_006724730.1:p.Gln2329LeufsTer29
XM_017029601.2:c.7174_7175insT XP_016885090.1:p.Gln2392LeufsTer29
XM_017029602.1:c.7144_7145insT XP_016885091.1:p.Gln2382LeufsTer29
XM_017029603.1:c.7096_7097insT XP_016885092.1:p.Gln2366LeufsTer29
XM_017029604.2:c.7063_7064insT XP_016885093.1:p.Gln2355LeufsTer29
XM_017029605.1:c.7060_7061insT XP_016885094.1:p.Gln2354LeufsTer29
XM_017029606.2:c.7033_7034insT XP_016885095.1:p.Gln2345LeufsTer29
XM_017029607.2:c.7030_7031insT XP_016885096.1:p.Gln2344LeufsTer29
XM_017029608.2:c.6982_6983insT XP_016885097.1:p.Gln2328LeufsTer29
XM_017029609.1:c.6946_6947insT XP_016885098.1:p.Gln2316LeufsTer29
XM_017029610.1:c.6943_6944insT XP_016885099.1:p.Gln2315LeufsTer29
XM_017029611.1:c.6898_6899insT XP_016885100.1:p.Gln2300LeufsTer29
XR_001755700.2:n.7563_7564insT
NM_138270.4:c.7150_7151insT NP_612114.2:p.Gln2384LeufsTer29
NM_000489.6:c.7264_7265insT MANE Select NP_000480.3:p.Gln2422LeufsTer29
NM_138270.5:c.7150_7151insT NP_612114.2:p.Gln2384LeufsTer29