Canonical Allele Identifier: CA645612977

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 992839
• ClinVar RCV Id: RCV001281601
• gnomAD v4: 20-32436827-CTT-C
• COSMIC: COSM5879678 ; COSM5879679

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436830_32436831del , CM000682.2:g.32436830_32436831del	GRCh38
NC_000020.10:g.31024633_31024634del , CM000682.1:g.31024633_31024634del	GRCh37
NC_000020.9:g.30488294_30488295del	NCBI36
NG_027868.1:g.83487_83488del , LRG_630:g.83487_83488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4118_4119del MANE Select	ENSP00000364839.4:p.Phe1373CysfsTer6
ENST00000646985.1:c.3935_3936del	ENSP00000495053.1:p.Phe1312CysfsTer6
ENST00000647223.1:n.6471_6472del
ENST00000651418.1:c.1870-1600_1870-1599del	ENSP00000499150.1:n.1870-1600_1870-1599del
ENST00000306058.9:c.4103_4104del	ENSP00000305119.5:p.Phe1368CysfsTer6
ENST00000375687.8:c.4118_4119del	ENSP00000364839.4:p.Phe1373CysfsTer6
ENST00000613218.4:c.4118_4119del	ENSP00000480487.1:p.Phe1373CysfsTer6
ENST00000620121.4:c.4118_4119del	ENSP00000481978.1:p.Phe1373CysfsTer6
NM_015338.5:c.4118_4119del , LRG_630t1:c.4118_4119del	NP_056153.2:p.Phe1373CysfsTer6
XM_006723727.2:c.4115_4116del	XP_006723790.1:p.Phe1372CysfsTer6
XM_006723728.2:c.4088_4089del	XP_006723791.1:p.Phe1363CysfsTer6
XM_006723730.2:c.4034_4035del	XP_006723793.1:p.Phe1345CysfsTer6
XM_006723732.2:c.3935_3936del	XP_006723795.1:p.Phe1312CysfsTer6
XM_006723733.1:c.3434_3435del	XP_006723796.1:p.Phe1145CysfsTer6
XM_011528647.1:c.4382_4383del	XP_011526949.1:p.Phe1461CysfsTer6
XM_011528648.1:c.4379_4380del	XP_011526950.1:p.Phe1460CysfsTer6
XM_011528649.1:c.4298_4299del	XP_011526951.1:p.Phe1433CysfsTer6
XM_011528650.1:c.4229_4230del	XP_011526952.1:p.Phe1410CysfsTer6
XM_011528651.1:c.4097_4098del	XP_011526953.1:p.Phe1366CysfsTer6
XM_011528652.1:c.4034_4035del	XP_011526954.1:p.Phe1345CysfsTer6
NM_001363734.1:c.3935_3936del	NP_001350663.1:p.Phe1312CysfsTer6
XM_006723727.3:c.4115_4116del	XP_006723790.1:p.Phe1372CysfsTer6
XM_006723728.3:c.4088_4089del	XP_006723791.1:p.Phe1363CysfsTer6
XM_006723730.4:c.4034_4035del	XP_006723793.1:p.Phe1345CysfsTer6
XM_011528648.3:c.4379_4380del	XP_011526950.1:p.Phe1460CysfsTer6
XM_011528652.2:c.4034_4035del	XP_011526954.1:p.Phe1345CysfsTer6
XM_017027704.1:c.4034_4035del	XP_016883193.1:p.Phe1345CysfsTer6
XM_017027705.1:c.4034_4035del	XP_016883194.1:p.Phe1345CysfsTer6
XM_017027706.1:c.3965_3966del	XP_016883195.1:p.Phe1322CysfsTer6
NM_015338.6:c.4118_4119del MANE Select	NP_056153.2:p.Phe1373CysfsTer6