Canonical Allele Identifier: CA2695227383

Gene: ASXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739325_33739328dup , CM000680.2:g.33739325_33739328dup	GRCh38
NC_000018.9:g.31319289_31319292dup , CM000680.1:g.31319289_31319292dup	GRCh37
NC_000018.8:g.29573287_29573290dup	NCBI36
NG_055244.1:g.165749_165752dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1924_1927dup	ENSP00000513003.1:p.Pro643HisfsTer6
ENST00000269197.12:c.1921_1924dup MANE Select	ENSP00000269197.4:p.Pro642HisfsTer6
ENST00000592288.6:c.*1045_*1048dup	ENSP00000465053.1:n.*1045_*1048dup
ENST00000592541.6:c.*1580_*1583dup	ENSP00000466655.2:n.*1580_*1583dup
ENST00000593195.6:c.2133_2136dup	ENSP00000466073.1:n.2133_2136dup
ENST00000642541.1:c.1753_1756dup	ENSP00000493665.1:p.Pro586HisfsTer6
ENST00000681521.1:c.1801_1804dup	ENSP00000506037.1:p.Pro602HisfsTer6
ENST00000269197.9:c.1921_1924dup	ENSP00000269197.4:p.Pro642HisfsTer6
ENST00000592288.5:c.*1045_*1048dup	ENSP00000465053.1:n.*1045_*1048dup
NM_030632.1:c.1921_1924dup	NP_085135.1:p.Pro642HisfsTer6
XM_005258356.1:c.1924_1927dup	XP_005258413.1:p.Pro643HisfsTer6
XM_011526205.1:c.1897_1900dup	XP_011524507.1:p.Pro634HisfsTer6
XM_011526206.1:c.1843_1846dup	XP_011524508.1:p.Pro616HisfsTer6
XM_011526207.1:c.1843_1846dup	XP_011524509.1:p.Pro616HisfsTer6
XM_011526208.1:c.1804_1807dup	XP_011524510.1:p.Pro603HisfsTer6
XM_011526209.1:c.1753_1756dup	XP_011524511.1:p.Pro586HisfsTer6
XM_011526210.1:c.1753_1756dup	XP_011524512.1:p.Pro586HisfsTer6
XM_011526211.1:c.1753_1756dup	XP_011524513.1:p.Pro586HisfsTer6
XM_011526212.1:c.1753_1756dup	XP_011524514.1:p.Pro586HisfsTer6
XM_011526213.1:c.1753_1756dup	XP_011524515.1:p.Pro586HisfsTer6
XM_011526214.1:c.1753_1756dup	XP_011524516.1:p.Pro586HisfsTer6
NM_030632.2:c.1921_1924dup	NP_085135.1:p.Pro642HisfsTer6
XM_011526205.2:c.1897_1900dup	XP_011524507.1:p.Pro634HisfsTer6
XM_011526206.2:c.1843_1846dup	XP_011524508.1:p.Pro616HisfsTer6
XM_011526213.2:c.1753_1756dup	XP_011524515.1:p.Pro586HisfsTer6
XM_017026012.1:c.1843_1846dup	XP_016881501.1:p.Pro616HisfsTer6
XM_017026013.1:c.1753_1756dup	XP_016881502.1:p.Pro586HisfsTer6
XM_017026014.2:c.1753_1756dup	XP_016881503.1:p.Pro586HisfsTer6
XM_024451269.1:c.1753_1756dup	XP_024307037.1:p.Pro586HisfsTer6
NM_030632.3:c.1921_1924dup MANE Select	NP_085135.1:p.Pro642HisfsTer6