Canonical Allele Identifier: CA2514490153
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77520770_77520772del , CM000685.2:g.77520770_77520772del GRCh38
NC_000023.10:g.76776248_76776250del , CM000685.1:g.76776248_76776250del GRCh37
NC_000023.9:g.76662904_76662906del NCBI36
NG_008838.2:g.270450_270452del
NG_008838.3:g.270498_270500del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7200+16_7200+18del MANE Select ENSP00000362441.4:n.7200+16_7200+18del
ENST00000675732.1:c.2298+16_2298+18del ENSP00000502598.1:n.2298+16_2298+18del
ENST00000373344.9:c.7200+16_7200+18del ENSP00000362441.4:n.7200+16_7200+18del
ENST00000395603.7:c.7086+16_7086+18del ENSP00000378967.3:n.7086+16_7086+18del
ENST00000480283.5:c.*6828+16_*6828+18del ENSP00000480196.1:n.*6828+16_*6828+18del
ENST00000623706.3:n.5520+16_5520+18del
ENST00000624766.1:n.431+16_431+18del
NM_000489.4:c.7200+16_7200+18del NP_000480.3:n.7200+16_7200+18del
NM_138270.3:c.7086+16_7086+18del NP_612114.2:n.7086+16_7086+18del
XM_005262153.3:c.7197+16_7197+18del XP_005262210.2:n.7197+16_7197+18del
XM_005262154.3:c.7113+16_7113+18del XP_005262211.2:n.7113+16_7113+18del
XM_005262155.3:c.7083+16_7083+18del XP_005262212.2:n.7083+16_7083+18del
XM_005262156.3:c.7035+16_7035+18del XP_005262213.2:n.7035+16_7035+18del
XM_005262157.3:c.6996+16_6996+18del XP_005262214.2:n.6996+16_6996+18del
XM_006724666.2:c.7083+16_7083+18del XP_006724729.1:n.7083+16_7083+18del
XM_006724667.2:c.6921+16_6921+18del XP_006724730.1:n.6921+16_6921+18del
XR_938400.1:n.8792+16_8792+18del
NM_000489.5:c.7200+16_7200+18del NP_000480.3:n.7200+16_7200+18del
XM_005262153.5:c.7197+16_7197+18del XP_005262210.2:n.7197+16_7197+18del
XM_005262154.5:c.7113+16_7113+18del XP_005262211.2:n.7113+16_7113+18del
XM_005262155.4:c.7083+16_7083+18del XP_005262212.2:n.7083+16_7083+18del
XM_005262156.4:c.7035+16_7035+18del XP_005262213.2:n.7035+16_7035+18del
XM_005262157.5:c.6996+16_6996+18del XP_005262214.2:n.6996+16_6996+18del
XM_006724666.4:c.7083+16_7083+18del XP_006724729.1:n.7083+16_7083+18del
XM_006724667.3:c.6921+16_6921+18del XP_006724730.1:n.6921+16_6921+18del
XM_017029601.2:c.7110+16_7110+18del XP_016885090.1:n.7110+16_7110+18del
XM_017029602.1:c.7080+16_7080+18del XP_016885091.1:n.7080+16_7080+18del
XM_017029603.1:c.7032+16_7032+18del XP_016885092.1:n.7032+16_7032+18del
XM_017029604.2:c.6999+16_6999+18del XP_016885093.1:n.6999+16_6999+18del
XM_017029605.1:c.6996+16_6996+18del XP_016885094.1:n.6996+16_6996+18del
XM_017029606.2:c.6969+16_6969+18del XP_016885095.1:n.6969+16_6969+18del
XM_017029607.2:c.6966+16_6966+18del XP_016885096.1:n.6966+16_6966+18del
XM_017029608.2:c.6918+16_6918+18del XP_016885097.1:n.6918+16_6918+18del
XM_017029609.1:c.6882+16_6882+18del XP_016885098.1:n.6882+16_6882+18del
XM_017029610.1:c.6879+16_6879+18del XP_016885099.1:n.6879+16_6879+18del
XM_017029611.1:c.6834+16_6834+18del XP_016885100.1:n.6834+16_6834+18del
XR_001755700.2:n.7499+16_7499+18del
NM_138270.4:c.7086+16_7086+18del NP_612114.2:n.7086+16_7086+18del
NM_000489.6:c.7200+16_7200+18del MANE Select NP_000480.3:n.7200+16_7200+18del
NM_138270.5:c.7086+16_7086+18del NP_612114.2:n.7086+16_7086+18del