Canonical Allele Identifier: CA658795129

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 635047
• ClinVar RCV Id: RCV000785921
• dbSNP Id: rs1599563995

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739253_33739254del , CM000680.2:g.33739253_33739254del	GRCh38
NC_000018.9:g.31319217_31319218del , CM000680.1:g.31319217_31319218del	GRCh37
NC_000018.8:g.29573215_29573216del	NCBI36
NG_055244.1:g.165677_165678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1852_1853del	ENSP00000513003.1:p.Ser618ProfsTer29
ENST00000269197.12:c.1849_1850del MANE Select	ENSP00000269197.4:p.Ser617ProfsTer29
ENST00000592288.6:c.*973_*974del	ENSP00000465053.1:n.*973_*974del
ENST00000592541.6:c.*1508_*1509del	ENSP00000466655.2:n.*1508_*1509del
ENST00000593195.6:c.2061_2062del	ENSP00000466073.1:n.2061_2062del
ENST00000642541.1:c.1681_1682del	ENSP00000493665.1:p.Ser561ProfsTer29
ENST00000681521.1:c.1729_1730del	ENSP00000506037.1:p.Ser577ProfsTer29
ENST00000269197.9:c.1849_1850del	ENSP00000269197.4:p.Ser617ProfsTer29
ENST00000592288.5:c.*973_*974del	ENSP00000465053.1:n.*973_*974del
NM_030632.1:c.1849_1850del	NP_085135.1:p.Ser617ProfsTer29
XM_005258356.1:c.1852_1853del	XP_005258413.1:p.Ser618ProfsTer29
XM_011526205.1:c.1825_1826del	XP_011524507.1:p.Ser609ProfsTer29
XM_011526206.1:c.1771_1772del	XP_011524508.1:p.Ser591ProfsTer29
XM_011526207.1:c.1771_1772del	XP_011524509.1:p.Ser591ProfsTer29
XM_011526208.1:c.1732_1733del	XP_011524510.1:p.Ser578ProfsTer29
XM_011526209.1:c.1681_1682del	XP_011524511.1:p.Ser561ProfsTer29
XM_011526210.1:c.1681_1682del	XP_011524512.1:p.Ser561ProfsTer29
XM_011526211.1:c.1681_1682del	XP_011524513.1:p.Ser561ProfsTer29
XM_011526212.1:c.1681_1682del	XP_011524514.1:p.Ser561ProfsTer29
XM_011526213.1:c.1681_1682del	XP_011524515.1:p.Ser561ProfsTer29
XM_011526214.1:c.1681_1682del	XP_011524516.1:p.Ser561ProfsTer29
NM_030632.2:c.1849_1850del	NP_085135.1:p.Ser617ProfsTer29
XM_011526205.2:c.1825_1826del	XP_011524507.1:p.Ser609ProfsTer29
XM_011526206.2:c.1771_1772del	XP_011524508.1:p.Ser591ProfsTer29
XM_011526213.2:c.1681_1682del	XP_011524515.1:p.Ser561ProfsTer29
XM_017026012.1:c.1771_1772del	XP_016881501.1:p.Ser591ProfsTer29
XM_017026013.1:c.1681_1682del	XP_016881502.1:p.Ser561ProfsTer29
XM_017026014.2:c.1681_1682del	XP_016881503.1:p.Ser561ProfsTer29
XM_024451269.1:c.1681_1682del	XP_024307037.1:p.Ser561ProfsTer29
NM_030632.3:c.1849_1850del MANE Select	NP_085135.1:p.Ser617ProfsTer29