Canonical Allele Identifier: CA645612970

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 632647
• ClinVar RCV Id: RCV000779755
• dbSNP Id: rs1569337176
• COSMIC: COSM4385135 ; COSM4385136

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436349del , CM000682.2:g.32436349del	GRCh38
NC_000020.10:g.31024152del , CM000682.1:g.31024152del	GRCh37
NC_000020.9:g.30487813del	NCBI36
NG_027868.1:g.83006del , LRG_630:g.83006del

Transcript Alleles

HGVS	Amino-acid change
ENST00000375687.10:c.3637del MANE Select	ENSP00000364839.4:p.Leu1213SerfsTer4
ENST00000646985.1:c.3454del	ENSP00000495053.1:p.Leu1152SerfsTer4
ENST00000647223.1:n.5990del
ENST00000651418.1:c.1869+1768del	ENSP00000499150.1:n.1869+1768del
ENST00000306058.9:c.3622del	ENSP00000305119.5:p.Leu1208SerfsTer4
ENST00000375687.8:c.3637del	ENSP00000364839.4:p.Leu1213SerfsTer4
ENST00000613218.4:c.3637del	ENSP00000480487.1:p.Leu1213SerfsTer4
ENST00000620121.4:c.3637del	ENSP00000481978.1:p.Leu1213SerfsTer4
NM_015338.5:c.3637del , LRG_630t1:c.3637del	NP_056153.2:p.Leu1213SerfsTer4
XM_006723727.2:c.3634del	XP_006723790.1:p.Leu1212SerfsTer4
XM_006723728.2:c.3607del	XP_006723791.1:p.Leu1203SerfsTer4
XM_006723730.2:c.3553del	XP_006723793.1:p.Leu1185SerfsTer4
XM_006723732.2:c.3454del	XP_006723795.1:p.Leu1152SerfsTer4
XM_006723733.1:c.2953del	XP_006723796.1:p.Leu985SerfsTer4
XM_011528647.1:c.3901del	XP_011526949.1:p.Leu1301SerfsTer4
XM_011528648.1:c.3898del	XP_011526950.1:p.Leu1300SerfsTer4
XM_011528649.1:c.3817del	XP_011526951.1:p.Leu1273SerfsTer4
XM_011528650.1:c.3748del	XP_011526952.1:p.Leu1250SerfsTer4
XM_011528651.1:c.3616del	XP_011526953.1:p.Leu1206SerfsTer4
XM_011528652.1:c.3553del	XP_011526954.1:p.Leu1185SerfsTer4
NM_001363734.1:c.3454del	NP_001350663.1:p.Leu1152SerfsTer4
XM_006723727.3:c.3634del	XP_006723790.1:p.Leu1212SerfsTer4
XM_006723728.3:c.3607del	XP_006723791.1:p.Leu1203SerfsTer4
XM_006723730.4:c.3553del	XP_006723793.1:p.Leu1185SerfsTer4
XM_011528648.3:c.3898del	XP_011526950.1:p.Leu1300SerfsTer4
XM_011528652.2:c.3553del	XP_011526954.1:p.Leu1185SerfsTer4
XM_017027704.1:c.3553del	XP_016883193.1:p.Leu1185SerfsTer4
XM_017027705.1:c.3553del	XP_016883194.1:p.Leu1185SerfsTer4
XM_017027706.1:c.3484del	XP_016883195.1:p.Leu1162SerfsTer4
NM_015338.6:c.3637del MANE Select	NP_056153.2:p.Leu1213SerfsTer4