Canonical Allele Identifier: CA9808490

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 426927
• ClinVar RCV Id: RCV000489373 ; RCV000677687 ; RCV001526628
• dbSNP Id: rs750318549
• ExAC: 20:31022441 A / AG
• gnomAD v2: 20-31022441-A-AG
• gnomAD v3: 20-32434638-A-AG
• gnomAD v4: 20-32434638-A-AG
• COSMIC: COSM34210 ; COSM1411076 ; COSM1658769 ; COSM4170082 ; COSM4336754 ; COSM6034306
• MyVariant Identifiers: chr20:g.31022449dup (hg19) ; chr20:g.31022443_31022444insG (hg19) ; chr20:g.31022442_31022443insG (hg19) ; chr20:g.31022441_31022442insG (hg19) ; chr20:g.32434646dup (hg38) ; chr20:g.32434638_32434639insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32434646dup , CM000682.2:g.32434646dup	GRCh38
NC_000020.10:g.31022449dup , CM000682.1:g.31022449dup	GRCh37
NC_000020.9:g.30486110dup	NCBI36
NG_027868.1:g.81303dup , LRG_630:g.81303dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.1934dup MANE Select	ENSP00000364839.4:p.Gly646TrpfsTer12
ENST00000646985.1:c.1751dup	ENSP00000495053.1:p.Gly585TrpfsTer12
ENST00000647223.1:n.4287dup
ENST00000651418.1:c.1869+65dup	ENSP00000499150.1:n.1869+65dup
ENST00000306058.9:c.1919dup	ENSP00000305119.5:p.Gly641TrpfsTer12
ENST00000375687.8:c.1934dup	ENSP00000364839.4:p.Gly646TrpfsTer12
ENST00000613218.4:c.1934dup	ENSP00000480487.1:p.Gly646TrpfsTer12
ENST00000620121.4:c.1934dup	ENSP00000481978.1:p.Gly646TrpfsTer12
NM_015338.5:c.1934dup , LRG_630t1:c.1934dup	NP_056153.2:p.Gly646TrpfsTer12
XM_006723727.2:c.1931dup	XP_006723790.1:p.Gly645TrpfsTer12
XM_006723728.2:c.1904dup	XP_006723791.1:p.Gly636TrpfsTer12
XM_006723730.2:c.1850dup	XP_006723793.1:p.Gly618TrpfsTer12
XM_006723732.2:c.1751dup	XP_006723795.1:p.Gly585TrpfsTer12
XM_006723733.1:c.1250dup	XP_006723796.1:p.Gly418TrpfsTer12
XM_011528647.1:c.2198dup	XP_011526949.1:p.Gly734TrpfsTer12
XM_011528648.1:c.2195dup	XP_011526950.1:p.Gly733TrpfsTer12
XM_011528649.1:c.2114dup	XP_011526951.1:p.Gly706TrpfsTer12
XM_011528650.1:c.2045dup	XP_011526952.1:p.Gly683TrpfsTer12
XM_011528651.1:c.1913dup	XP_011526953.1:p.Gly639TrpfsTer12
XM_011528652.1:c.1850dup	XP_011526954.1:p.Gly618TrpfsTer12
NM_001363734.1:c.1751dup	NP_001350663.1:p.Gly585TrpfsTer12
XM_006723727.3:c.1931dup	XP_006723790.1:p.Gly645TrpfsTer12
XM_006723728.3:c.1904dup	XP_006723791.1:p.Gly636TrpfsTer12
XM_006723730.4:c.1850dup	XP_006723793.1:p.Gly618TrpfsTer12
XM_011528648.3:c.2195dup	XP_011526950.1:p.Gly733TrpfsTer12
XM_011528652.2:c.1850dup	XP_011526954.1:p.Gly618TrpfsTer12
XM_017027704.1:c.1850dup	XP_016883193.1:p.Gly618TrpfsTer12
XM_017027705.1:c.1850dup	XP_016883194.1:p.Gly618TrpfsTer12
XM_017027706.1:c.1781dup	XP_016883195.1:p.Gly595TrpfsTer12
NM_015338.6:c.1934dup MANE Select	NP_056153.2:p.Gly646TrpfsTer12