Canonical Allele Identifier: CA2641457188

Gene: ASXL3

Linked Data

• gnomAD v4: 18-33739129-GTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739132_33739134del , CM000680.2:g.33739132_33739134del	GRCh38
NC_000018.9:g.31319096_31319098del , CM000680.1:g.31319096_31319098del	GRCh37
NC_000018.8:g.29573094_29573096del	NCBI36
NG_055244.1:g.165556_165558del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1731_1733del	ENSP00000513003.1:p.Ser578del
ENST00000269197.12:c.1728_1730del MANE Select	ENSP00000269197.4:p.Ser577del
ENST00000592288.6:c.*852_*854del	ENSP00000465053.1:n.*852_*854del
ENST00000592541.6:c.*1387_*1389del	ENSP00000466655.2:n.*1387_*1389del
ENST00000593195.6:c.1940_1942del	ENSP00000466073.1:n.1940_1942del
ENST00000642541.1:c.1560_1562del	ENSP00000493665.1:p.Ser521del
ENST00000681521.1:c.1608_1610del	ENSP00000506037.1:p.Ser537del
ENST00000269197.9:c.1728_1730del	ENSP00000269197.4:p.Ser577del
ENST00000592288.5:c.*852_*854del	ENSP00000465053.1:n.*852_*854del
NM_030632.1:c.1728_1730del	NP_085135.1:p.Ser577del
XM_005258356.1:c.1731_1733del	XP_005258413.1:p.Ser578del
XM_011526205.1:c.1704_1706del	XP_011524507.1:p.Ser569del
XM_011526206.1:c.1650_1652del	XP_011524508.1:p.Ser551del
XM_011526207.1:c.1650_1652del	XP_011524509.1:p.Ser551del
XM_011526208.1:c.1611_1613del	XP_011524510.1:p.Ser538del
XM_011526209.1:c.1560_1562del	XP_011524511.1:p.Ser521del
XM_011526210.1:c.1560_1562del	XP_011524512.1:p.Ser521del
XM_011526211.1:c.1560_1562del	XP_011524513.1:p.Ser521del
XM_011526212.1:c.1560_1562del	XP_011524514.1:p.Ser521del
XM_011526213.1:c.1560_1562del	XP_011524515.1:p.Ser521del
XM_011526214.1:c.1560_1562del	XP_011524516.1:p.Ser521del
NM_030632.2:c.1728_1730del	NP_085135.1:p.Ser577del
XM_011526205.2:c.1704_1706del	XP_011524507.1:p.Ser569del
XM_011526206.2:c.1650_1652del	XP_011524508.1:p.Ser551del
XM_011526213.2:c.1560_1562del	XP_011524515.1:p.Ser521del
XM_017026012.1:c.1650_1652del	XP_016881501.1:p.Ser551del
XM_017026013.1:c.1560_1562del	XP_016881502.1:p.Ser521del
XM_017026014.2:c.1560_1562del	XP_016881503.1:p.Ser521del
XM_024451269.1:c.1560_1562del	XP_024307037.1:p.Ser521del
NM_030632.3:c.1728_1730del MANE Select	NP_085135.1:p.Ser577del