Canonical Allele Identifier: CA2695229722

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436308_32436318del , CM000682.2:g.32436308_32436318del	GRCh38
NC_000020.10:g.31024111_31024121del , CM000682.1:g.31024111_31024121del	GRCh37
NC_000020.9:g.30487772_30487782del	NCBI36
NG_027868.1:g.82965_82975del , LRG_630:g.82965_82975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3596_3606del MANE Select	ENSP00000364839.4:p.Ala1199GlufsTer9
ENST00000646985.1:c.3413_3423del	ENSP00000495053.1:p.Ala1138GlufsTer9
ENST00000647223.1:n.5949_5959del
ENST00000651418.1:c.1869+1727_1869+1737del	ENSP00000499150.1:n.1869+1727_1869+1737del
ENST00000306058.9:c.3581_3591del	ENSP00000305119.5:p.Ala1194GlufsTer9
ENST00000375687.8:c.3596_3606del	ENSP00000364839.4:p.Ala1199GlufsTer9
ENST00000613218.4:c.3596_3606del	ENSP00000480487.1:p.Ala1199GlufsTer9
ENST00000620121.4:c.3596_3606del	ENSP00000481978.1:p.Ala1199GlufsTer9
NM_015338.5:c.3596_3606del , LRG_630t1:c.3596_3606del	NP_056153.2:p.Ala1199GlufsTer9
XM_006723727.2:c.3593_3603del	XP_006723790.1:p.Ala1198GlufsTer9
XM_006723728.2:c.3566_3576del	XP_006723791.1:p.Ala1189GlufsTer9
XM_006723730.2:c.3512_3522del	XP_006723793.1:p.Ala1171GlufsTer9
XM_006723732.2:c.3413_3423del	XP_006723795.1:p.Ala1138GlufsTer9
XM_006723733.1:c.2912_2922del	XP_006723796.1:p.Ala971GlufsTer9
XM_011528647.1:c.3860_3870del	XP_011526949.1:p.Ala1287GlufsTer9
XM_011528648.1:c.3857_3867del	XP_011526950.1:p.Ala1286GlufsTer9
XM_011528649.1:c.3776_3786del	XP_011526951.1:p.Ala1259GlufsTer9
XM_011528650.1:c.3707_3717del	XP_011526952.1:p.Ala1236GlufsTer9
XM_011528651.1:c.3575_3585del	XP_011526953.1:p.Ala1192GlufsTer9
XM_011528652.1:c.3512_3522del	XP_011526954.1:p.Ala1171GlufsTer9
NM_001363734.1:c.3413_3423del	NP_001350663.1:p.Ala1138GlufsTer9
XM_006723727.3:c.3593_3603del	XP_006723790.1:p.Ala1198GlufsTer9
XM_006723728.3:c.3566_3576del	XP_006723791.1:p.Ala1189GlufsTer9
XM_006723730.4:c.3512_3522del	XP_006723793.1:p.Ala1171GlufsTer9
XM_011528648.3:c.3857_3867del	XP_011526950.1:p.Ala1286GlufsTer9
XM_011528652.2:c.3512_3522del	XP_011526954.1:p.Ala1171GlufsTer9
XM_017027704.1:c.3512_3522del	XP_016883193.1:p.Ala1171GlufsTer9
XM_017027705.1:c.3512_3522del	XP_016883194.1:p.Ala1171GlufsTer9
XM_017027706.1:c.3443_3453del	XP_016883195.1:p.Ala1148GlufsTer9
NM_015338.6:c.3596_3606del MANE Select	NP_056153.2:p.Ala1199GlufsTer9