Canonical Allele Identifier: CA658653850

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 441020
• ClinVar RCV Id: RCV000059323 ; RCV000509280 ; RCV000624407
• dbSNP Id: rs1555742500
• MyVariant Identifiers: chr18:g.31319346_31319349del (hg19) ; chr18:g.33739382_33739385del (hg38)
• PubMed: PMID:21706002 ; PMID:23383720 ; PMID:24044690 ; PMID:25363760 ; PMID:26647312 ; PMID:27075689 ; PMID:27901041 ; PMID:28100473 ; PMID:28955728

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739382_33739385del , CM000680.2:g.33739382_33739385del	GRCh38
NC_000018.9:g.31319346_31319349del , CM000680.1:g.31319346_31319349del	GRCh37
NC_000018.8:g.29573344_29573347del	NCBI36
NG_055244.1:g.165806_165809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1981_1984del	ENSP00000513003.1:p.Asp661AsnfsTer16
ENST00000269197.12:c.1978_1981del MANE Select	ENSP00000269197.4:p.Asp660AsnfsTer16
ENST00000592288.6:c.*1102_*1105del	ENSP00000465053.1:n.*1102_*1105del
ENST00000592541.6:c.*1637_*1640del	ENSP00000466655.2:n.*1637_*1640del
ENST00000593195.6:c.2190_2193del	ENSP00000466073.1:n.2190_2193del
ENST00000642541.1:c.1810_1813del	ENSP00000493665.1:p.Asp604AsnfsTer16
ENST00000681521.1:c.1858_1861del	ENSP00000506037.1:p.Asp620AsnfsTer16
ENST00000269197.9:c.1978_1981del	ENSP00000269197.4:p.Asp660AsnfsTer16
ENST00000592288.5:c.*1102_*1105del	ENSP00000465053.1:n.*1102_*1105del
NM_030632.1:c.1978_1981del	NP_085135.1:p.Asp660AsnfsTer16
XM_005258356.1:c.1981_1984del	XP_005258413.1:p.Asp661AsnfsTer16
XM_011526205.1:c.1954_1957del	XP_011524507.1:p.Asp652AsnfsTer16
XM_011526206.1:c.1900_1903del	XP_011524508.1:p.Asp634AsnfsTer16
XM_011526207.1:c.1900_1903del	XP_011524509.1:p.Asp634AsnfsTer16
XM_011526208.1:c.1861_1864del	XP_011524510.1:p.Asp621AsnfsTer16
XM_011526209.1:c.1810_1813del	XP_011524511.1:p.Asp604AsnfsTer16
XM_011526210.1:c.1810_1813del	XP_011524512.1:p.Asp604AsnfsTer16
XM_011526211.1:c.1810_1813del	XP_011524513.1:p.Asp604AsnfsTer16
XM_011526212.1:c.1810_1813del	XP_011524514.1:p.Asp604AsnfsTer16
XM_011526213.1:c.1810_1813del	XP_011524515.1:p.Asp604AsnfsTer16
XM_011526214.1:c.1810_1813del	XP_011524516.1:p.Asp604AsnfsTer16
NM_030632.2:c.1978_1981del	NP_085135.1:p.Asp660AsnfsTer16
XM_011526205.2:c.1954_1957del	XP_011524507.1:p.Asp652AsnfsTer16
XM_011526206.2:c.1900_1903del	XP_011524508.1:p.Asp634AsnfsTer16
XM_011526213.2:c.1810_1813del	XP_011524515.1:p.Asp604AsnfsTer16
XM_017026012.1:c.1900_1903del	XP_016881501.1:p.Asp634AsnfsTer16
XM_017026013.1:c.1810_1813del	XP_016881502.1:p.Asp604AsnfsTer16
XM_017026014.2:c.1810_1813del	XP_016881503.1:p.Asp604AsnfsTer16
XM_024451269.1:c.1810_1813del	XP_024307037.1:p.Asp604AsnfsTer16
NM_030632.3:c.1978_1981del MANE Select	NP_085135.1:p.Asp660AsnfsTer16