Canonical Allele Identifier: CA16043209
Gene: ASXL1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436606_32436609dup , CM000682.2:g.32436606_32436609dup GRCh38
NC_000020.10:g.31024409_31024412dup , CM000682.1:g.31024409_31024412dup GRCh37
NC_000020.9:g.30488070_30488073dup NCBI36
NG_027868.1:g.83263_83266dup , LRG_630:g.83263_83266dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3894_3897dup MANE Select ENSP00000364839.4:p.Gln1300ArgfsTer30
ENST00000646985.1:c.3711_3714dup ENSP00000495053.1:p.Gln1239ArgfsTer30
ENST00000647223.1:n.6247_6250dup
ENST00000651418.1:c.1870-1824_1870-1821dup ENSP00000499150.1:n.1870-1824_1870-1821dup
ENST00000306058.9:c.3879_3882dup ENSP00000305119.5:p.Gln1295ArgfsTer30
ENST00000375687.8:c.3894_3897dup ENSP00000364839.4:p.Gln1300ArgfsTer30
ENST00000613218.4:c.3894_3897dup ENSP00000480487.1:p.Gln1300ArgfsTer30
ENST00000620121.4:c.3894_3897dup ENSP00000481978.1:p.Gln1300ArgfsTer30
NM_015338.5:c.3894_3897dup , LRG_630t1:c.3894_3897dup NP_056153.2:p.Gln1300ArgfsTer30
XM_006723727.2:c.3891_3894dup XP_006723790.1:p.Gln1299ArgfsTer30
XM_006723728.2:c.3864_3867dup XP_006723791.1:p.Gln1290ArgfsTer30
XM_006723730.2:c.3810_3813dup XP_006723793.1:p.Gln1272ArgfsTer30
XM_006723732.2:c.3711_3714dup XP_006723795.1:p.Gln1239ArgfsTer30
XM_006723733.1:c.3210_3213dup XP_006723796.1:p.Gln1072ArgfsTer30
XM_011528647.1:c.4158_4161dup XP_011526949.1:p.Gln1388ArgfsTer30
XM_011528648.1:c.4155_4158dup XP_011526950.1:p.Gln1387ArgfsTer30
XM_011528649.1:c.4074_4077dup XP_011526951.1:p.Gln1360ArgfsTer30
XM_011528650.1:c.4005_4008dup XP_011526952.1:p.Gln1337ArgfsTer30
XM_011528651.1:c.3873_3876dup XP_011526953.1:p.Gln1293ArgfsTer30
XM_011528652.1:c.3810_3813dup XP_011526954.1:p.Gln1272ArgfsTer30
NM_001363734.1:c.3711_3714dup NP_001350663.1:p.Gln1239ArgfsTer30
XM_006723727.3:c.3891_3894dup XP_006723790.1:p.Gln1299ArgfsTer30
XM_006723728.3:c.3864_3867dup XP_006723791.1:p.Gln1290ArgfsTer30
XM_006723730.4:c.3810_3813dup XP_006723793.1:p.Gln1272ArgfsTer30
XM_011528648.3:c.4155_4158dup XP_011526950.1:p.Gln1387ArgfsTer30
XM_011528652.2:c.3810_3813dup XP_011526954.1:p.Gln1272ArgfsTer30
XM_017027704.1:c.3810_3813dup XP_016883193.1:p.Gln1272ArgfsTer30
XM_017027705.1:c.3810_3813dup XP_016883194.1:p.Gln1272ArgfsTer30
XM_017027706.1:c.3741_3744dup XP_016883195.1:p.Gln1249ArgfsTer30
NM_015338.6:c.3894_3897dup MANE Select NP_056153.2:p.Gln1300ArgfsTer30
Search 100 bp 5'
Search 100 bp 3'