Canonical Allele Identifier: CA2579648810
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77574254_77574255del , CM000685.2:g.77574254_77574255del GRCh38
NC_000023.10:g.76829719_76829720del , CM000685.1:g.76829719_76829720del GRCh37
NC_000023.9:g.76716375_76716376del NCBI36
NG_008838.2:g.216969_216970del
NG_008838.3:g.217017_217018del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.6323_6324del MANE Select ENSP00000362441.4:p.Val2108GlufsTer10
ENST00000675732.1:c.1421_1422del ENSP00000502598.1:p.Val474GlufsTer10
ENST00000373344.9:c.6323_6324del ENSP00000362441.4:p.Val2108GlufsTer10
ENST00000395603.7:c.6209_6210del ENSP00000378967.3:p.Val2070GlufsTer10
ENST00000480283.5:c.*5951_*5952del ENSP00000480196.1:n.*5951_*5952del
ENST00000623706.3:n.3393_3394del
NM_000489.4:c.6323_6324del NP_000480.3:p.Val2108GlufsTer10
NM_138270.3:c.6209_6210del NP_612114.2:p.Val2070GlufsTer10
XM_005262153.3:c.6320_6321del XP_005262210.2:p.Val2107GlufsTer10
XM_005262154.3:c.6236_6237del XP_005262211.2:p.Val2079GlufsTer10
XM_005262155.3:c.6206_6207del XP_005262212.2:p.Val2069GlufsTer10
XM_005262156.3:c.6158_6159del XP_005262213.2:p.Val2053GlufsTer10
XM_005262157.3:c.6119_6120del XP_005262214.2:p.Val2040GlufsTer10
XM_006724666.2:c.6206_6207del XP_006724729.1:p.Val2069GlufsTer10
XM_006724667.2:c.6044_6045del XP_006724730.1:p.Val2015GlufsTer10
XR_938400.1:n.6665_6666del
NM_000489.5:c.6323_6324del NP_000480.3:p.Val2108GlufsTer10
XM_005262153.5:c.6320_6321del XP_005262210.2:p.Val2107GlufsTer10
XM_005262154.5:c.6236_6237del XP_005262211.2:p.Val2079GlufsTer10
XM_005262155.4:c.6206_6207del XP_005262212.2:p.Val2069GlufsTer10
XM_005262156.4:c.6158_6159del XP_005262213.2:p.Val2053GlufsTer10
XM_005262157.5:c.6119_6120del XP_005262214.2:p.Val2040GlufsTer10
XM_006724666.4:c.6206_6207del XP_006724729.1:p.Val2069GlufsTer10
XM_006724667.3:c.6044_6045del XP_006724730.1:p.Val2015GlufsTer10
XM_017029601.2:c.6233_6234del XP_016885090.1:p.Val2078GlufsTer10
XM_017029602.1:c.6203_6204del XP_016885091.1:p.Val2068GlufsTer10
XM_017029603.1:c.6155_6156del XP_016885092.1:p.Val2052GlufsTer10
XM_017029604.2:c.6122_6123del XP_016885093.1:p.Val2041GlufsTer10
XM_017029605.1:c.6119_6120del XP_016885094.1:p.Val2040GlufsTer10
XM_017029606.2:c.6092_6093del XP_016885095.1:p.Val2031GlufsTer10
XM_017029607.2:c.6089_6090del XP_016885096.1:p.Val2030GlufsTer10
XM_017029608.2:c.6041_6042del XP_016885097.1:p.Val2014GlufsTer10
XM_017029609.1:c.6005_6006del XP_016885098.1:p.Val2002GlufsTer10
XM_017029610.1:c.6002_6003del XP_016885099.1:p.Val2001GlufsTer10
XM_017029611.1:c.5957_5958del XP_016885100.1:p.Val1986GlufsTer10
XR_001755700.2:n.6622_6623del
NM_138270.4:c.6209_6210del NP_612114.2:p.Val2070GlufsTer10
NM_000489.6:c.6323_6324del MANE Select NP_000480.3:p.Val2108GlufsTer10
NM_138270.5:c.6209_6210del NP_612114.2:p.Val2070GlufsTer10