Canonical Allele Identifier: CA2812055559
Gene: ASXL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33739333_33739338del , CM000680.2:g.33739333_33739338del GRCh38
NC_000018.9:g.31319297_31319302del , CM000680.1:g.31319297_31319302del GRCh37
NC_000018.8:g.29573295_29573300del NCBI36
NG_055244.1:g.165757_165762del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696964.1:c.1932_1937del ENSP00000513003.1:p.Ser645_Leu646del
ENST00000269197.12:c.1929_1934del MANE Select ENSP00000269197.4:p.Ser644_Leu645del
ENST00000592288.6:c.*1053_*1058del ENSP00000465053.1:n.*1053_*1058del
ENST00000592541.6:c.*1588_*1593del ENSP00000466655.2:n.*1588_*1593del
ENST00000593195.6:c.2141_2146del ENSP00000466073.1:n.2141_2146del
ENST00000642541.1:c.1761_1766del ENSP00000493665.1:p.Ser588_Leu589del
ENST00000681521.1:c.1809_1814del ENSP00000506037.1:p.Ser604_Leu605del
ENST00000269197.9:c.1929_1934del ENSP00000269197.4:p.Ser644_Leu645del
ENST00000592288.5:c.*1053_*1058del ENSP00000465053.1:n.*1053_*1058del
NM_030632.1:c.1929_1934del NP_085135.1:p.Ser644_Leu645del
XM_005258356.1:c.1932_1937del XP_005258413.1:p.Ser645_Leu646del
XM_011526205.1:c.1905_1910del XP_011524507.1:p.Ser636_Leu637del
XM_011526206.1:c.1851_1856del XP_011524508.1:p.Ser618_Leu619del
XM_011526207.1:c.1851_1856del XP_011524509.1:p.Ser618_Leu619del
XM_011526208.1:c.1812_1817del XP_011524510.1:p.Ser605_Leu606del
XM_011526209.1:c.1761_1766del XP_011524511.1:p.Ser588_Leu589del
XM_011526210.1:c.1761_1766del XP_011524512.1:p.Ser588_Leu589del
XM_011526211.1:c.1761_1766del XP_011524513.1:p.Ser588_Leu589del
XM_011526212.1:c.1761_1766del XP_011524514.1:p.Ser588_Leu589del
XM_011526213.1:c.1761_1766del XP_011524515.1:p.Ser588_Leu589del
XM_011526214.1:c.1761_1766del XP_011524516.1:p.Ser588_Leu589del
NM_030632.2:c.1929_1934del NP_085135.1:p.Ser644_Leu645del
XM_011526205.2:c.1905_1910del XP_011524507.1:p.Ser636_Leu637del
XM_011526206.2:c.1851_1856del XP_011524508.1:p.Ser618_Leu619del
XM_011526213.2:c.1761_1766del XP_011524515.1:p.Ser588_Leu589del
XM_017026012.1:c.1851_1856del XP_016881501.1:p.Ser618_Leu619del
XM_017026013.1:c.1761_1766del XP_016881502.1:p.Ser588_Leu589del
XM_017026014.2:c.1761_1766del XP_016881503.1:p.Ser588_Leu589del
XM_024451269.1:c.1761_1766del XP_024307037.1:p.Ser588_Leu589del
NM_030632.3:c.1929_1934del MANE Select NP_085135.1:p.Ser644_Leu645del