Canonical Allele Identifier: CA2577366299

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436115del , CM000682.2:g.32436115del	GRCh38
NC_000020.10:g.31023918del , CM000682.1:g.31023918del	GRCh37
NC_000020.9:g.30487579del	NCBI36
NG_027868.1:g.82772del , LRG_630:g.82772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3403del MANE Select	ENSP00000364839.4:p.Gln1135LysfsTer?
ENST00000646985.1:c.3220del	ENSP00000495053.1:p.Gln1074LysfsTer?
ENST00000647223.1:n.5756del
ENST00000651418.1:c.1869+1534del	ENSP00000499150.1:n.1869+1534del
ENST00000306058.9:c.3388del	ENSP00000305119.5:p.Gln1130LysfsTer?
ENST00000375687.8:c.3403del	ENSP00000364839.4:p.Gln1135LysfsTer?
ENST00000613218.4:c.3403del	ENSP00000480487.1:p.Gln1135LysfsTer?
ENST00000620121.4:c.3403del	ENSP00000481978.1:p.Gln1135LysfsTer?
NM_015338.5:c.3403del , LRG_630t1:c.3403del	NP_056153.2:p.Gln1135LysfsTer?
XM_006723727.2:c.3400del	XP_006723790.1:p.Gln1134LysfsTer?
XM_006723728.2:c.3373del	XP_006723791.1:p.Gln1125LysfsTer?
XM_006723730.2:c.3319del	XP_006723793.1:p.Gln1107LysfsTer?
XM_006723732.2:c.3220del	XP_006723795.1:p.Gln1074LysfsTer?
XM_006723733.1:c.2719del	XP_006723796.1:p.Gln907LysfsTer?
XM_011528647.1:c.3667del	XP_011526949.1:p.Gln1223LysfsTer?
XM_011528648.1:c.3664del	XP_011526950.1:p.Gln1222LysfsTer?
XM_011528649.1:c.3583del	XP_011526951.1:p.Gln1195LysfsTer?
XM_011528650.1:c.3514del	XP_011526952.1:p.Gln1172LysfsTer?
XM_011528651.1:c.3382del	XP_011526953.1:p.Gln1128LysfsTer?
XM_011528652.1:c.3319del	XP_011526954.1:p.Gln1107LysfsTer?
NM_001363734.1:c.3220del	NP_001350663.1:p.Gln1074LysfsTer?
XM_006723727.3:c.3400del	XP_006723790.1:p.Gln1134LysfsTer?
XM_006723728.3:c.3373del	XP_006723791.1:p.Gln1125LysfsTer?
XM_006723730.4:c.3319del	XP_006723793.1:p.Gln1107LysfsTer?
XM_011528648.3:c.3664del	XP_011526950.1:p.Gln1222LysfsTer?
XM_011528652.2:c.3319del	XP_011526954.1:p.Gln1107LysfsTer?
XM_017027704.1:c.3319del	XP_016883193.1:p.Gln1107LysfsTer?
XM_017027705.1:c.3319del	XP_016883194.1:p.Gln1107LysfsTer?
XM_017027706.1:c.3250del	XP_016883195.1:p.Gln1084LysfsTer?
NM_015338.6:c.3403del MANE Select	NP_056153.2:p.Gln1135LysfsTer?