Canonical Allele Identifier: CA2438976932
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652312_77652327delinsCTCCTCCTCTTCTTTT , CM000685.2:g.77652312_77652327delinsCTCCTCCTCTTCTTTT GRCh38
NC_000023.10:g.76907802_76907817delinsCTCCTCCTCTTCTTTT , CM000685.1:g.76907802_76907817delinsCTCCTCCTCTTCTTTT GRCh37
NC_000023.9:g.76794458_76794473delinsCTCCTCCTCTTCTTTT NCBI36
NG_008838.2:g.138895_138910delinsAAAAGAAGAGGAGGAG
NG_008838.3:g.138943_138958delinsAAAAGAAGAGGAGGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4344_4359delinsAAAAGAAGAGGAGGAG MANE Select ENSP00000362441.4:p.Glu1448=
ENST00000373344.9:c.4344_4359delinsAAAAGAAGAGGAGGAG ENSP00000362441.4:p.Glu1448=
ENST00000395603.7:c.4230_4245delinsAAAAGAAGAGGAGGAG ENSP00000378967.3:p.Glu1410=
ENST00000480283.5:c.*3972_*3987delinsAAAAGAAGAGGAGGAG ENSP00000480196.1:n.*3972_*3987delinsAAAAGAAGAGGAGGAG
NM_000489.4:c.4344_4359delinsAAAAGAAGAGGAGGAG NP_000480.3:p.Glu1448=
NM_138270.3:c.4230_4245delinsAAAAGAAGAGGAGGAG NP_612114.2:p.Glu1410=
XM_005262153.3:c.4341_4356delinsAAAAGAAGAGGAGGAG XP_005262210.2:p.Glu1447=
XM_005262154.3:c.4257_4272delinsAAAAGAAGAGGAGGAG XP_005262211.2:p.Glu1419=
XM_005262155.3:c.4227_4242delinsAAAAGAAGAGGAGGAG XP_005262212.2:p.Glu1409=
XM_005262156.3:c.4179_4194delinsAAAAGAAGAGGAGGAG XP_005262213.2:p.Glu1393=
XM_005262157.3:c.4140_4155delinsAAAAGAAGAGGAGGAG XP_005262214.2:p.Glu1380=
XM_006724666.2:c.4227_4242delinsAAAAGAAGAGGAGGAG XP_006724729.1:p.Glu1409=
XM_006724667.2:c.4065_4080delinsAAAAGAAGAGGAGGAG XP_006724730.1:p.Glu1355=
XM_006724668.2:c.4344_4359delinsAAAAGAAGAGGAGGAG XP_006724731.1:p.Glu1448=
XR_938400.1:n.4612_4627delinsAAAAGAAGAGGAGGAG
NM_000489.5:c.4344_4359delinsAAAAGAAGAGGAGGAG NP_000480.3:p.Glu1448=
XM_005262153.5:c.4341_4356delinsAAAAGAAGAGGAGGAG XP_005262210.2:p.Glu1447=
XM_005262154.5:c.4257_4272delinsAAAAGAAGAGGAGGAG XP_005262211.2:p.Glu1419=
XM_005262155.4:c.4227_4242delinsAAAAGAAGAGGAGGAG XP_005262212.2:p.Glu1409=
XM_005262156.4:c.4179_4194delinsAAAAGAAGAGGAGGAG XP_005262213.2:p.Glu1393=
XM_005262157.5:c.4140_4155delinsAAAAGAAGAGGAGGAG XP_005262214.2:p.Glu1380=
XM_006724666.4:c.4227_4242delinsAAAAGAAGAGGAGGAG XP_006724729.1:p.Glu1409=
XM_006724667.3:c.4065_4080delinsAAAAGAAGAGGAGGAG XP_006724730.1:p.Glu1355=
XM_006724668.3:c.4344_4359delinsAAAAGAAGAGGAGGAG XP_006724731.1:p.Glu1448=
XM_017029601.2:c.4254_4269delinsAAAAGAAGAGGAGGAG XP_016885090.1:p.Glu1418=
XM_017029602.1:c.4224_4239delinsAAAAGAAGAGGAGGAG XP_016885091.1:p.Glu1408=
XM_017029603.1:c.4176_4191delinsAAAAGAAGAGGAGGAG XP_016885092.1:p.Glu1392=
XM_017029604.2:c.4143_4158delinsAAAAGAAGAGGAGGAG XP_016885093.1:p.Glu1381=
XM_017029605.1:c.4140_4155delinsAAAAGAAGAGGAGGAG XP_016885094.1:p.Glu1380=
XM_017029606.2:c.4113_4128delinsAAAAGAAGAGGAGGAG XP_016885095.1:p.Glu1371=
XM_017029607.2:c.4110_4125delinsAAAAGAAGAGGAGGAG XP_016885096.1:p.Glu1370=
XM_017029608.2:c.4062_4077delinsAAAAGAAGAGGAGGAG XP_016885097.1:p.Glu1354=
XM_017029609.1:c.4026_4041delinsAAAAGAAGAGGAGGAG XP_016885098.1:p.Glu1342=
XM_017029610.1:c.4023_4038delinsAAAAGAAGAGGAGGAG XP_016885099.1:p.Glu1341=
XM_017029611.1:c.3978_3993delinsAAAAGAAGAGGAGGAG XP_016885100.1:p.Glu1326=
XR_001755700.2:n.4569_4584delinsAAAAGAAGAGGAGGAG
NM_138270.4:c.4230_4245delinsAAAAGAAGAGGAGGAG NP_612114.2:p.Glu1410=
NM_000489.6:c.4344_4359delinsAAAAGAAGAGGAGGAG MANE Select NP_000480.3:p.Glu1448=
NM_138270.5:c.4230_4245delinsAAAAGAAGAGGAGGAG NP_612114.2:p.Glu1410=