Canonical Allele Identifier: CA9808065

Gene: ASXL1

Linked Data

• dbSNP Id: rs746933839
• ExAC: 20:31016096 TAGGG / T
• gnomAD v2: 20-31016096-TAGGG-T
• gnomAD v4: 20-32428293-TAGGG-T
• MyVariant Identifiers: chr20:g.31016097_31016100del (hg19) ; chr20:g.32428294_32428297del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428295_32428298del , CM000682.2:g.32428295_32428298del	GRCh38
NC_000020.10:g.31016098_31016101del , CM000682.1:g.31016098_31016101del	GRCh37
NC_000020.9:g.30479759_30479762del	NCBI36
NG_027868.1:g.74952_74955del , LRG_630:g.74952_74955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.374-30_374-27del MANE Select	ENSP00000364839.4:n.374-30_374-27del
ENST00000470145.3:n.363_366del
ENST00000643168.1:c.290-30_290-27del	ENSP00000495003.1:n.290-30_290-27del
ENST00000644060.1:n.1178-30_1178-27del
ENST00000644587.1:c.*213-30_*213-27del	ENSP00000494813.1:n.*213-30_*213-27del
ENST00000644615.1:n.78-30_78-27del
ENST00000645514.1:n.168_171del
ENST00000646985.1:c.344-30_344-27del	ENSP00000495053.1:n.344-30_344-27del
ENST00000651418.1:c.374-30_374-27del	ENSP00000499150.1:n.374-30_374-27del
ENST00000306058.9:c.359-30_359-27del	ENSP00000305119.5:n.359-30_359-27del
ENST00000375687.8:c.374-30_374-27del	ENSP00000364839.4:n.374-30_374-27del
ENST00000470145.2:n.363_366del
ENST00000613218.4:c.374-30_374-27del	ENSP00000480487.1:n.374-30_374-27del
ENST00000620121.4:c.374-30_374-27del	ENSP00000481978.1:n.374-30_374-27del
NM_015338.5:c.374-30_374-27del , LRG_630t1:c.374-30_374-27del	NP_056153.2:n.374-30_374-27del
XM_006723727.2:c.371-30_371-27del	XP_006723790.1:n.371-30_371-27del
XM_006723728.2:c.344-30_344-27del	XP_006723791.1:n.344-30_344-27del
XM_006723730.2:c.290-30_290-27del	XP_006723793.1:n.290-30_290-27del
XM_006723732.2:c.344-30_344-27del	XP_006723795.1:n.344-30_344-27del
XM_011528647.1:c.638-30_638-27del	XP_011526949.1:n.638-30_638-27del
XM_011528648.1:c.635-30_635-27del	XP_011526950.1:n.635-30_635-27del
XM_011528649.1:c.554-30_554-27del	XP_011526951.1:n.554-30_554-27del
XM_011528650.1:c.638-30_638-27del	XP_011526952.1:n.638-30_638-27del
XM_011528651.1:c.353-30_353-27del	XP_011526953.1:n.353-30_353-27del
XM_011528652.1:c.290-30_290-27del	XP_011526954.1:n.290-30_290-27del
NM_001363734.1:c.344-30_344-27del	NP_001350663.1:n.344-30_344-27del
XM_006723727.3:c.371-30_371-27del	XP_006723790.1:n.371-30_371-27del
XM_006723728.3:c.344-30_344-27del	XP_006723791.1:n.344-30_344-27del
XM_006723730.4:c.290-30_290-27del	XP_006723793.1:n.290-30_290-27del
XM_011528648.3:c.635-30_635-27del	XP_011526950.1:n.635-30_635-27del
XM_011528652.2:c.290-30_290-27del	XP_011526954.1:n.290-30_290-27del
XM_017027704.1:c.290-30_290-27del	XP_016883193.1:n.290-30_290-27del
XM_017027705.1:c.290-30_290-27del	XP_016883194.1:n.290-30_290-27del
XM_017027706.1:c.374-30_374-27del	XP_016883195.1:n.374-30_374-27del
NM_015338.6:c.374-30_374-27del MANE Select	NP_056153.2:n.374-30_374-27del