Canonical Allele Identifier: CA2695229723

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436313del , CM000682.2:g.32436313del	GRCh38
NC_000020.10:g.31024116del , CM000682.1:g.31024116del	GRCh37
NC_000020.9:g.30487777del	NCBI36
NG_027868.1:g.82970del , LRG_630:g.82970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3601del MANE Select	ENSP00000364839.4:p.Gln1201LysfsTer16
ENST00000646985.1:c.3418del	ENSP00000495053.1:p.Gln1140LysfsTer16
ENST00000647223.1:n.5954del
ENST00000651418.1:c.1869+1732del	ENSP00000499150.1:n.1869+1732del
ENST00000306058.9:c.3586del	ENSP00000305119.5:p.Gln1196LysfsTer16
ENST00000375687.8:c.3601del	ENSP00000364839.4:p.Gln1201LysfsTer16
ENST00000613218.4:c.3601del	ENSP00000480487.1:p.Gln1201LysfsTer16
ENST00000620121.4:c.3601del	ENSP00000481978.1:p.Gln1201LysfsTer16
NM_015338.5:c.3601del , LRG_630t1:c.3601del	NP_056153.2:p.Gln1201LysfsTer16
XM_006723727.2:c.3598del	XP_006723790.1:p.Gln1200LysfsTer16
XM_006723728.2:c.3571del	XP_006723791.1:p.Gln1191LysfsTer16
XM_006723730.2:c.3517del	XP_006723793.1:p.Gln1173LysfsTer16
XM_006723732.2:c.3418del	XP_006723795.1:p.Gln1140LysfsTer16
XM_006723733.1:c.2917del	XP_006723796.1:p.Gln973LysfsTer16
XM_011528647.1:c.3865del	XP_011526949.1:p.Gln1289LysfsTer16
XM_011528648.1:c.3862del	XP_011526950.1:p.Gln1288LysfsTer16
XM_011528649.1:c.3781del	XP_011526951.1:p.Gln1261LysfsTer16
XM_011528650.1:c.3712del	XP_011526952.1:p.Gln1238LysfsTer16
XM_011528651.1:c.3580del	XP_011526953.1:p.Gln1194LysfsTer16
XM_011528652.1:c.3517del	XP_011526954.1:p.Gln1173LysfsTer16
NM_001363734.1:c.3418del	NP_001350663.1:p.Gln1140LysfsTer16
XM_006723727.3:c.3598del	XP_006723790.1:p.Gln1200LysfsTer16
XM_006723728.3:c.3571del	XP_006723791.1:p.Gln1191LysfsTer16
XM_006723730.4:c.3517del	XP_006723793.1:p.Gln1173LysfsTer16
XM_011528648.3:c.3862del	XP_011526950.1:p.Gln1288LysfsTer16
XM_011528652.2:c.3517del	XP_011526954.1:p.Gln1173LysfsTer16
XM_017027704.1:c.3517del	XP_016883193.1:p.Gln1173LysfsTer16
XM_017027705.1:c.3517del	XP_016883194.1:p.Gln1173LysfsTer16
XM_017027706.1:c.3448del	XP_016883195.1:p.Gln1150LysfsTer16
NM_015338.6:c.3601del MANE Select	NP_056153.2:p.Gln1201LysfsTer16