Canonical Allele Identifier: CA2499225724

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1223850
• ClinVar RCV Id: RCV001596644
• dbSNP Id: rs2145392365

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436830_32436846del , CM000682.2:g.32436830_32436846del	GRCh38
NC_000020.10:g.31024633_31024649del , CM000682.1:g.31024633_31024649del	GRCh37
NC_000020.9:g.30488294_30488310del	NCBI36
NG_027868.1:g.83487_83503del , LRG_630:g.83487_83503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4118_4134del MANE Select	ENSP00000364839.4:p.Phe1373Ter
ENST00000646985.1:c.3935_3951del	ENSP00000495053.1:p.Phe1312Ter
ENST00000647223.1:n.6471_6487del
ENST00000651418.1:c.1870-1600_1870-1584del	ENSP00000499150.1:n.1870-1600_1870-1584del
ENST00000306058.9:c.4103_4119del	ENSP00000305119.5:p.Phe1368Ter
ENST00000375687.8:c.4118_4134del	ENSP00000364839.4:p.Phe1373Ter
ENST00000613218.4:c.4118_4134del	ENSP00000480487.1:p.Phe1373Ter
ENST00000620121.4:c.4118_4134del	ENSP00000481978.1:p.Phe1373Ter
NM_015338.5:c.4118_4134del , LRG_630t1:c.4118_4134del	NP_056153.2:p.Phe1373Ter
XM_006723727.2:c.4115_4131del	XP_006723790.1:p.Phe1372Ter
XM_006723728.2:c.4088_4104del	XP_006723791.1:p.Phe1363Ter
XM_006723730.2:c.4034_4050del	XP_006723793.1:p.Phe1345Ter
XM_006723732.2:c.3935_3951del	XP_006723795.1:p.Phe1312Ter
XM_006723733.1:c.3434_3450del	XP_006723796.1:p.Phe1145Ter
XM_011528647.1:c.4382_4398del	XP_011526949.1:p.Phe1461Ter
XM_011528648.1:c.4379_4395del	XP_011526950.1:p.Phe1460Ter
XM_011528649.1:c.4298_4314del	XP_011526951.1:p.Phe1433Ter
XM_011528650.1:c.4229_4245del	XP_011526952.1:p.Phe1410Ter
XM_011528651.1:c.4097_4113del	XP_011526953.1:p.Phe1366Ter
XM_011528652.1:c.4034_4050del	XP_011526954.1:p.Phe1345Ter
NM_001363734.1:c.3935_3951del	NP_001350663.1:p.Phe1312Ter
XM_006723727.3:c.4115_4131del	XP_006723790.1:p.Phe1372Ter
XM_006723728.3:c.4088_4104del	XP_006723791.1:p.Phe1363Ter
XM_006723730.4:c.4034_4050del	XP_006723793.1:p.Phe1345Ter
XM_011528648.3:c.4379_4395del	XP_011526950.1:p.Phe1460Ter
XM_011528652.2:c.4034_4050del	XP_011526954.1:p.Phe1345Ter
XM_017027704.1:c.4034_4050del	XP_016883193.1:p.Phe1345Ter
XM_017027705.1:c.4034_4050del	XP_016883194.1:p.Phe1345Ter
XM_017027706.1:c.3965_3981del	XP_016883195.1:p.Phe1322Ter
NM_015338.6:c.4118_4134del MANE Select	NP_056153.2:p.Phe1373Ter