Canonical Allele Identifier: CA2816151276
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436014_32436016del , CM000682.2:g.32436014_32436016del GRCh38
NC_000020.10:g.31023817_31023819del , CM000682.1:g.31023817_31023819del GRCh37
NC_000020.9:g.30487478_30487480del NCBI36
NG_027868.1:g.82671_82673del , LRG_630:g.82671_82673del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3302_3304del MANE Select ENSP00000364839.4:p.Val1101del
ENST00000646985.1:c.3119_3121del ENSP00000495053.1:p.Val1040del
ENST00000647223.1:n.5655_5657del
ENST00000651418.1:c.1869+1433_1869+1435del ENSP00000499150.1:n.1869+1433_1869+1435del
ENST00000306058.9:c.3287_3289del ENSP00000305119.5:p.Val1096del
ENST00000375687.8:c.3302_3304del ENSP00000364839.4:p.Val1101del
ENST00000613218.4:c.3302_3304del ENSP00000480487.1:p.Val1101del
ENST00000620121.4:c.3302_3304del ENSP00000481978.1:p.Val1101del
NM_015338.5:c.3302_3304del , LRG_630t1:c.3302_3304del NP_056153.2:p.Val1101del
XM_006723727.2:c.3299_3301del XP_006723790.1:p.Val1100del
XM_006723728.2:c.3272_3274del XP_006723791.1:p.Val1091del
XM_006723730.2:c.3218_3220del XP_006723793.1:p.Val1073del
XM_006723732.2:c.3119_3121del XP_006723795.1:p.Val1040del
XM_006723733.1:c.2618_2620del XP_006723796.1:p.Val873del
XM_011528647.1:c.3566_3568del XP_011526949.1:p.Val1189del
XM_011528648.1:c.3563_3565del XP_011526950.1:p.Val1188del
XM_011528649.1:c.3482_3484del XP_011526951.1:p.Val1161del
XM_011528650.1:c.3413_3415del XP_011526952.1:p.Val1138del
XM_011528651.1:c.3281_3283del XP_011526953.1:p.Val1094del
XM_011528652.1:c.3218_3220del XP_011526954.1:p.Val1073del
NM_001363734.1:c.3119_3121del NP_001350663.1:p.Val1040del
XM_006723727.3:c.3299_3301del XP_006723790.1:p.Val1100del
XM_006723728.3:c.3272_3274del XP_006723791.1:p.Val1091del
XM_006723730.4:c.3218_3220del XP_006723793.1:p.Val1073del
XM_011528648.3:c.3563_3565del XP_011526950.1:p.Val1188del
XM_011528652.2:c.3218_3220del XP_011526954.1:p.Val1073del
XM_017027704.1:c.3218_3220del XP_016883193.1:p.Val1073del
XM_017027705.1:c.3218_3220del XP_016883194.1:p.Val1073del
XM_017027706.1:c.3149_3151del XP_016883195.1:p.Val1050del
NM_015338.6:c.3302_3304del MANE Select NP_056153.2:p.Val1101del