Canonical Allele Identifier: CA2294855975
Gene: ASXL3 HGNC NCBI

Linked Data

dbSNP Id: rs2067614218

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33739434_33739438del , CM000680.2:g.33739434_33739438del GRCh38
NC_000018.9:g.31319398_31319402del , CM000680.1:g.31319398_31319402del GRCh37
NC_000018.8:g.29573396_29573400del NCBI36
NG_055244.1:g.165858_165862del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696964.1:c.2033_2037del ENSP00000513003.1:p.Met678ArgfsTer10
ENST00000269197.12:c.2030_2034del MANE Select ENSP00000269197.4:p.Met677ArgfsTer10
ENST00000592288.6:c.*1154_*1158del ENSP00000465053.1:n.*1154_*1158del
ENST00000592541.6:c.*1689_*1693del ENSP00000466655.2:n.*1689_*1693del
ENST00000593195.6:c.2242_2246del ENSP00000466073.1:n.2242_2246del
ENST00000642541.1:c.1862_1866del ENSP00000493665.1:p.Met621ArgfsTer10
ENST00000681521.1:c.1910_1914del ENSP00000506037.1:p.Met637ArgfsTer10
ENST00000269197.9:c.2030_2034del ENSP00000269197.4:p.Met677ArgfsTer10
ENST00000592288.5:c.*1154_*1158del ENSP00000465053.1:n.*1154_*1158del
NM_030632.1:c.2030_2034del NP_085135.1:p.Met677ArgfsTer10
XM_005258356.1:c.2033_2037del XP_005258413.1:p.Met678ArgfsTer10
XM_011526205.1:c.2006_2010del XP_011524507.1:p.Met669ArgfsTer10
XM_011526206.1:c.1952_1956del XP_011524508.1:p.Met651ArgfsTer10
XM_011526207.1:c.1952_1956del XP_011524509.1:p.Met651ArgfsTer10
XM_011526208.1:c.1913_1917del XP_011524510.1:p.Met638ArgfsTer10
XM_011526209.1:c.1862_1866del XP_011524511.1:p.Met621ArgfsTer10
XM_011526210.1:c.1862_1866del XP_011524512.1:p.Met621ArgfsTer10
XM_011526211.1:c.1862_1866del XP_011524513.1:p.Met621ArgfsTer10
XM_011526212.1:c.1862_1866del XP_011524514.1:p.Met621ArgfsTer10
XM_011526213.1:c.1862_1866del XP_011524515.1:p.Met621ArgfsTer10
XM_011526214.1:c.1862_1866del XP_011524516.1:p.Met621ArgfsTer10
NM_030632.2:c.2030_2034del NP_085135.1:p.Met677ArgfsTer10
XM_011526205.2:c.2006_2010del XP_011524507.1:p.Met669ArgfsTer10
XM_011526206.2:c.1952_1956del XP_011524508.1:p.Met651ArgfsTer10
XM_011526213.2:c.1862_1866del XP_011524515.1:p.Met621ArgfsTer10
XM_017026012.1:c.1952_1956del XP_016881501.1:p.Met651ArgfsTer10
XM_017026013.1:c.1862_1866del XP_016881502.1:p.Met621ArgfsTer10
XM_017026014.2:c.1862_1866del XP_016881503.1:p.Met621ArgfsTer10
XM_024451269.1:c.1862_1866del XP_024307037.1:p.Met621ArgfsTer10
NM_030632.3:c.2030_2034del MANE Select NP_085135.1:p.Met677ArgfsTer10