Canonical Allele Identifier: CA2294855808

Gene: ASXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739070_33739085delinsACAGAACATAAGGAGT , CM000680.2:g.33739070_33739085delinsACAGAACATAAGGAGT	GRCh38
NC_000018.9:g.31319034_31319049delinsACAGAACATAAGGAGT , CM000680.1:g.31319034_31319049delinsACAGAACATAAGGAGT	GRCh37
NC_000018.8:g.29573032_29573047delinsACAGAACATAAGGAGT	NCBI36
NG_055244.1:g.165494_165509delinsACAGAACATAAGGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1669_1684delinsACAGAACATAAGGAGT	ENSP00000513003.1:p.Thr557=
ENST00000269197.12:c.1666_1681delinsACAGAACATAAGGAGT MANE Select	ENSP00000269197.4:p.Thr556=
ENST00000592288.6:c.*790_*805delinsACAGAACATAAGGAGT	ENSP00000465053.1:n.*790_*805delinsACAGAACATAAGGAGT
ENST00000592541.6:c.*1325_*1340delinsACAGAACATAAGGAGT	ENSP00000466655.2:n.*1325_*1340delinsACAGAACATAAGGAGT
ENST00000593195.6:c.1878_1893delinsACAGAACATAAGGAGT	ENSP00000466073.1:n.1878_1893delinsACAGAACATAAGGAGT
ENST00000642541.1:c.1498_1513delinsACAGAACATAAGGAGT	ENSP00000493665.1:p.Thr500=
ENST00000681521.1:c.1546_1561delinsACAGAACATAAGGAGT	ENSP00000506037.1:p.Thr516=
ENST00000269197.9:c.1666_1681delinsACAGAACATAAGGAGT	ENSP00000269197.4:p.Thr556=
ENST00000592288.5:c.*790_*805delinsACAGAACATAAGGAGT	ENSP00000465053.1:n.*790_*805delinsACAGAACATAAGGAGT
NM_030632.1:c.1666_1681delinsACAGAACATAAGGAGT	NP_085135.1:p.Thr556=
XM_005258356.1:c.1669_1684delinsACAGAACATAAGGAGT	XP_005258413.1:p.Thr557=
XM_011526205.1:c.1642_1657delinsACAGAACATAAGGAGT	XP_011524507.1:p.Thr548=
XM_011526206.1:c.1588_1603delinsACAGAACATAAGGAGT	XP_011524508.1:p.Thr530=
XM_011526207.1:c.1588_1603delinsACAGAACATAAGGAGT	XP_011524509.1:p.Thr530=
XM_011526208.1:c.1549_1564delinsACAGAACATAAGGAGT	XP_011524510.1:p.Thr517=
XM_011526209.1:c.1498_1513delinsACAGAACATAAGGAGT	XP_011524511.1:p.Thr500=
XM_011526210.1:c.1498_1513delinsACAGAACATAAGGAGT	XP_011524512.1:p.Thr500=
XM_011526211.1:c.1498_1513delinsACAGAACATAAGGAGT	XP_011524513.1:p.Thr500=
XM_011526212.1:c.1498_1513delinsACAGAACATAAGGAGT	XP_011524514.1:p.Thr500=
XM_011526213.1:c.1498_1513delinsACAGAACATAAGGAGT	XP_011524515.1:p.Thr500=
XM_011526214.1:c.1498_1513delinsACAGAACATAAGGAGT	XP_011524516.1:p.Thr500=
NM_030632.2:c.1666_1681delinsACAGAACATAAGGAGT	NP_085135.1:p.Thr556=
XM_011526205.2:c.1642_1657delinsACAGAACATAAGGAGT	XP_011524507.1:p.Thr548=
XM_011526206.2:c.1588_1603delinsACAGAACATAAGGAGT	XP_011524508.1:p.Thr530=
XM_011526213.2:c.1498_1513delinsACAGAACATAAGGAGT	XP_011524515.1:p.Thr500=
XM_017026012.1:c.1588_1603delinsACAGAACATAAGGAGT	XP_016881501.1:p.Thr530=
XM_017026013.1:c.1498_1513delinsACAGAACATAAGGAGT	XP_016881502.1:p.Thr500=
XM_017026014.2:c.1498_1513delinsACAGAACATAAGGAGT	XP_016881503.1:p.Thr500=
XM_024451269.1:c.1498_1513delinsACAGAACATAAGGAGT	XP_024307037.1:p.Thr500=
NM_030632.3:c.1666_1681delinsACAGAACATAAGGAGT MANE Select	NP_085135.1:p.Thr556=