Canonical Allele Identifier: CA2535703173

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435937_32435938del , CM000682.2:g.32435937_32435938del	GRCh38
NC_000020.10:g.31023740_31023741del , CM000682.1:g.31023740_31023741del	GRCh37
NC_000020.9:g.30487401_30487402del	NCBI36
NG_027868.1:g.82594_82595del , LRG_630:g.82594_82595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3225_3226del MANE Select	ENSP00000364839.4:p.Lys1075AsnfsTer11
ENST00000646985.1:c.3042_3043del	ENSP00000495053.1:p.Lys1014AsnfsTer11
ENST00000647223.1:n.5578_5579del
ENST00000651418.1:c.1869+1356_1869+1357del	ENSP00000499150.1:n.1869+1356_1869+1357del
ENST00000306058.9:c.3210_3211del	ENSP00000305119.5:p.Lys1070AsnfsTer11
ENST00000375687.8:c.3225_3226del	ENSP00000364839.4:p.Lys1075AsnfsTer11
ENST00000613218.4:c.3225_3226del	ENSP00000480487.1:p.Lys1075AsnfsTer11
ENST00000620121.4:c.3225_3226del	ENSP00000481978.1:p.Lys1075AsnfsTer11
NM_015338.5:c.3225_3226del , LRG_630t1:c.3225_3226del	NP_056153.2:p.Lys1075AsnfsTer11
XM_006723727.2:c.3222_3223del	XP_006723790.1:p.Lys1074AsnfsTer11
XM_006723728.2:c.3195_3196del	XP_006723791.1:p.Lys1065AsnfsTer11
XM_006723730.2:c.3141_3142del	XP_006723793.1:p.Lys1047AsnfsTer11
XM_006723732.2:c.3042_3043del	XP_006723795.1:p.Lys1014AsnfsTer11
XM_006723733.1:c.2541_2542del	XP_006723796.1:p.Lys847AsnfsTer11
XM_011528647.1:c.3489_3490del	XP_011526949.1:p.Lys1163AsnfsTer11
XM_011528648.1:c.3486_3487del	XP_011526950.1:p.Lys1162AsnfsTer11
XM_011528649.1:c.3405_3406del	XP_011526951.1:p.Lys1135AsnfsTer11
XM_011528650.1:c.3336_3337del	XP_011526952.1:p.Lys1112AsnfsTer11
XM_011528651.1:c.3204_3205del	XP_011526953.1:p.Lys1068AsnfsTer11
XM_011528652.1:c.3141_3142del	XP_011526954.1:p.Lys1047AsnfsTer11
NM_001363734.1:c.3042_3043del	NP_001350663.1:p.Lys1014AsnfsTer11
XM_006723727.3:c.3222_3223del	XP_006723790.1:p.Lys1074AsnfsTer11
XM_006723728.3:c.3195_3196del	XP_006723791.1:p.Lys1065AsnfsTer11
XM_006723730.4:c.3141_3142del	XP_006723793.1:p.Lys1047AsnfsTer11
XM_011528648.3:c.3486_3487del	XP_011526950.1:p.Lys1162AsnfsTer11
XM_011528652.2:c.3141_3142del	XP_011526954.1:p.Lys1047AsnfsTer11
XM_017027704.1:c.3141_3142del	XP_016883193.1:p.Lys1047AsnfsTer11
XM_017027705.1:c.3141_3142del	XP_016883194.1:p.Lys1047AsnfsTer11
XM_017027706.1:c.3072_3073del	XP_016883195.1:p.Lys1024AsnfsTer11
NM_015338.6:c.3225_3226del MANE Select	NP_056153.2:p.Lys1075AsnfsTer11