Canonical Allele Identifier: CA9808784

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 425268
• ClinVar RCV Id: RCV000487846
• dbSNP Id: rs754183801
• ExAC: 20:31023755 ACTG / A
• gnomAD v2: 20-31023755-ACTG-A
• gnomAD v3: 20-32435952-ACTG-A
• gnomAD v4: 20-32435952-ACTG-A
• MyVariant Identifiers: chr20:g.31023756_31023758del (hg19) ; chr20:g.32435953_32435955del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435956_32435958del , CM000682.2:g.32435956_32435958del	GRCh38
NC_000020.10:g.31023759_31023761del , CM000682.1:g.31023759_31023761del	GRCh37
NC_000020.9:g.30487420_30487422del	NCBI36
NG_027868.1:g.82613_82615del , LRG_630:g.82613_82615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3244_3246del MANE Select	ENSP00000364839.4:p.Leu1082del
ENST00000646985.1:c.3061_3063del	ENSP00000495053.1:p.Leu1021del
ENST00000647223.1:n.5597_5599del
ENST00000651418.1:c.1869+1375_1869+1377del	ENSP00000499150.1:n.1869+1375_1869+1377del
ENST00000306058.9:c.3229_3231del	ENSP00000305119.5:p.Leu1077del
ENST00000375687.8:c.3244_3246del	ENSP00000364839.4:p.Leu1082del
ENST00000613218.4:c.3244_3246del	ENSP00000480487.1:p.Leu1082del
ENST00000620121.4:c.3244_3246del	ENSP00000481978.1:p.Leu1082del
NM_015338.5:c.3244_3246del , LRG_630t1:c.3244_3246del	NP_056153.2:p.Leu1082del
XM_006723727.2:c.3241_3243del	XP_006723790.1:p.Leu1081del
XM_006723728.2:c.3214_3216del	XP_006723791.1:p.Leu1072del
XM_006723730.2:c.3160_3162del	XP_006723793.1:p.Leu1054del
XM_006723732.2:c.3061_3063del	XP_006723795.1:p.Leu1021del
XM_006723733.1:c.2560_2562del	XP_006723796.1:p.Leu854del
XM_011528647.1:c.3508_3510del	XP_011526949.1:p.Leu1170del
XM_011528648.1:c.3505_3507del	XP_011526950.1:p.Leu1169del
XM_011528649.1:c.3424_3426del	XP_011526951.1:p.Leu1142del
XM_011528650.1:c.3355_3357del	XP_011526952.1:p.Leu1119del
XM_011528651.1:c.3223_3225del	XP_011526953.1:p.Leu1075del
XM_011528652.1:c.3160_3162del	XP_011526954.1:p.Leu1054del
NM_001363734.1:c.3061_3063del	NP_001350663.1:p.Leu1021del
XM_006723727.3:c.3241_3243del	XP_006723790.1:p.Leu1081del
XM_006723728.3:c.3214_3216del	XP_006723791.1:p.Leu1072del
XM_006723730.4:c.3160_3162del	XP_006723793.1:p.Leu1054del
XM_011528648.3:c.3505_3507del	XP_011526950.1:p.Leu1169del
XM_011528652.2:c.3160_3162del	XP_011526954.1:p.Leu1054del
XM_017027704.1:c.3160_3162del	XP_016883193.1:p.Leu1054del
XM_017027705.1:c.3160_3162del	XP_016883194.1:p.Leu1054del
XM_017027706.1:c.3091_3093del	XP_016883195.1:p.Leu1031del
NM_015338.6:c.3244_3246del MANE Select	NP_056153.2:p.Leu1082del