Canonical Allele Identifier: CA2294855821

Gene: ASXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739098_33739100delinsTAG , CM000680.2:g.33739098_33739100delinsTAG	GRCh38
NC_000018.9:g.31319062_31319064delinsTAG , CM000680.1:g.31319062_31319064delinsTAG	GRCh37
NC_000018.8:g.29573060_29573062delinsTAG	NCBI36
NG_055244.1:g.165522_165524delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1697_1699delinsTAG	ENSP00000513003.1:p.Val566=
ENST00000269197.12:c.1694_1696delinsTAG MANE Select	ENSP00000269197.4:p.Val565=
ENST00000592288.6:c.*818_*820delinsTAG	ENSP00000465053.1:n.*818_*820delinsTAG
ENST00000592541.6:c.*1353_*1355delinsTAG	ENSP00000466655.2:n.*1353_*1355delinsTAG
ENST00000593195.6:c.1906_1908delinsTAG	ENSP00000466073.1:n.1906_1908delinsTAG
ENST00000642541.1:c.1526_1528delinsTAG	ENSP00000493665.1:p.Val509=
ENST00000681521.1:c.1574_1576delinsTAG	ENSP00000506037.1:p.Val525=
ENST00000269197.9:c.1694_1696delinsTAG	ENSP00000269197.4:p.Val565=
ENST00000592288.5:c.*818_*820delinsTAG	ENSP00000465053.1:n.*818_*820delinsTAG
NM_030632.1:c.1694_1696delinsTAG	NP_085135.1:p.Val565=
XM_005258356.1:c.1697_1699delinsTAG	XP_005258413.1:p.Val566=
XM_011526205.1:c.1670_1672delinsTAG	XP_011524507.1:p.Val557=
XM_011526206.1:c.1616_1618delinsTAG	XP_011524508.1:p.Val539=
XM_011526207.1:c.1616_1618delinsTAG	XP_011524509.1:p.Val539=
XM_011526208.1:c.1577_1579delinsTAG	XP_011524510.1:p.Val526=
XM_011526209.1:c.1526_1528delinsTAG	XP_011524511.1:p.Val509=
XM_011526210.1:c.1526_1528delinsTAG	XP_011524512.1:p.Val509=
XM_011526211.1:c.1526_1528delinsTAG	XP_011524513.1:p.Val509=
XM_011526212.1:c.1526_1528delinsTAG	XP_011524514.1:p.Val509=
XM_011526213.1:c.1526_1528delinsTAG	XP_011524515.1:p.Val509=
XM_011526214.1:c.1526_1528delinsTAG	XP_011524516.1:p.Val509=
NM_030632.2:c.1694_1696delinsTAG	NP_085135.1:p.Val565=
XM_011526205.2:c.1670_1672delinsTAG	XP_011524507.1:p.Val557=
XM_011526206.2:c.1616_1618delinsTAG	XP_011524508.1:p.Val539=
XM_011526213.2:c.1526_1528delinsTAG	XP_011524515.1:p.Val509=
XM_017026012.1:c.1616_1618delinsTAG	XP_016881501.1:p.Val539=
XM_017026013.1:c.1526_1528delinsTAG	XP_016881502.1:p.Val509=
XM_017026014.2:c.1526_1528delinsTAG	XP_016881503.1:p.Val509=
XM_024451269.1:c.1526_1528delinsTAG	XP_024307037.1:p.Val509=
NM_030632.3:c.1694_1696delinsTAG MANE Select	NP_085135.1:p.Val565=