Canonical Allele Identifier: CA2695202520

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436636_32436643del , CM000682.2:g.32436636_32436643del	GRCh38
NC_000020.10:g.31024439_31024446del , CM000682.1:g.31024439_31024446del	GRCh37
NC_000020.9:g.30488100_30488107del	NCBI36
NG_027868.1:g.83293_83300del , LRG_630:g.83293_83300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3924_3931del MANE Select	ENSP00000364839.4:p.Asn1309CysfsTer17
ENST00000646985.1:c.3741_3748del	ENSP00000495053.1:p.Asn1248CysfsTer17
ENST00000647223.1:n.6277_6284del
ENST00000651418.1:c.1870-1794_1870-1787del	ENSP00000499150.1:n.1870-1794_1870-1787del
ENST00000306058.9:c.3909_3916del	ENSP00000305119.5:p.Asn1304CysfsTer17
ENST00000375687.8:c.3924_3931del	ENSP00000364839.4:p.Asn1309CysfsTer17
ENST00000613218.4:c.3924_3931del	ENSP00000480487.1:p.Asn1309CysfsTer17
ENST00000620121.4:c.3924_3931del	ENSP00000481978.1:p.Asn1309CysfsTer17
NM_015338.5:c.3924_3931del , LRG_630t1:c.3924_3931del	NP_056153.2:p.Asn1309CysfsTer17
XM_006723727.2:c.3921_3928del	XP_006723790.1:p.Asn1308CysfsTer17
XM_006723728.2:c.3894_3901del	XP_006723791.1:p.Asn1299CysfsTer17
XM_006723730.2:c.3840_3847del	XP_006723793.1:p.Asn1281CysfsTer17
XM_006723732.2:c.3741_3748del	XP_006723795.1:p.Asn1248CysfsTer17
XM_006723733.1:c.3240_3247del	XP_006723796.1:p.Asn1081CysfsTer17
XM_011528647.1:c.4188_4195del	XP_011526949.1:p.Asn1397CysfsTer17
XM_011528648.1:c.4185_4192del	XP_011526950.1:p.Asn1396CysfsTer17
XM_011528649.1:c.4104_4111del	XP_011526951.1:p.Asn1369CysfsTer17
XM_011528650.1:c.4035_4042del	XP_011526952.1:p.Asn1346CysfsTer17
XM_011528651.1:c.3903_3910del	XP_011526953.1:p.Asn1302CysfsTer17
XM_011528652.1:c.3840_3847del	XP_011526954.1:p.Asn1281CysfsTer17
NM_001363734.1:c.3741_3748del	NP_001350663.1:p.Asn1248CysfsTer17
XM_006723727.3:c.3921_3928del	XP_006723790.1:p.Asn1308CysfsTer17
XM_006723728.3:c.3894_3901del	XP_006723791.1:p.Asn1299CysfsTer17
XM_006723730.4:c.3840_3847del	XP_006723793.1:p.Asn1281CysfsTer17
XM_011528648.3:c.4185_4192del	XP_011526950.1:p.Asn1396CysfsTer17
XM_011528652.2:c.3840_3847del	XP_011526954.1:p.Asn1281CysfsTer17
XM_017027704.1:c.3840_3847del	XP_016883193.1:p.Asn1281CysfsTer17
XM_017027705.1:c.3840_3847del	XP_016883194.1:p.Asn1281CysfsTer17
XM_017027706.1:c.3771_3778del	XP_016883195.1:p.Asn1258CysfsTer17
NM_015338.6:c.3924_3931del MANE Select	NP_056153.2:p.Asn1309CysfsTer17