Canonical Allele Identifier: CA2499225723

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435471_32435474dup , CM000682.2:g.32435471_32435474dup	GRCh38
NC_000020.10:g.31023274_31023277dup , CM000682.1:g.31023274_31023277dup	GRCh37
NC_000020.9:g.30486935_30486938dup	NCBI36
NG_027868.1:g.82128_82131dup , LRG_630:g.82128_82131dup

Transcript Alleles

HGVS	Amino-acid Change
NM_015338.6:c.2759_2762dup MANE Select	NP_056153.2:p.Val922IlefsTer3
ENST00000375687.10:c.2759_2762dup MANE Select	ENSP00000364839.4:p.Val922IlefsTer3
NM_001363734.1:c.2576_2579dup	NP_001350663.1:p.Val861IlefsTer3
NM_015338.5:c.2759_2762dup , LRG_630t1:c.2759_2762dup	NP_056153.2:p.Val922IlefsTer3
ENST00000306058.9:c.2744_2747dup	ENSP00000305119.5:p.Val917IlefsTer3
ENST00000375687.8:c.2759_2762dup	ENSP00000364839.4:p.Val922IlefsTer3
ENST00000613218.4:c.2759_2762dup	ENSP00000480487.1:p.Val922IlefsTer3
ENST00000620121.4:c.2759_2762dup	ENSP00000481978.1:p.Val922IlefsTer3
ENST00000646985.1:c.2576_2579dup	ENSP00000495053.1:p.Val861IlefsTer3
ENST00000647223.1:n.5112_5115dup
ENST00000651418.1:c.1869+890_1869+893dup	ENSP00000499150.1:n.1869+890_1869+893dup
XM_006723727.2:c.2756_2759dup	XP_006723790.1:p.Val921IlefsTer3
XM_006723727.3:c.2756_2759dup	XP_006723790.1:p.Val921IlefsTer3
XM_006723728.2:c.2729_2732dup	XP_006723791.1:p.Val912IlefsTer3
XM_006723728.3:c.2729_2732dup	XP_006723791.1:p.Val912IlefsTer3
XM_006723730.2:c.2675_2678dup	XP_006723793.1:p.Val894IlefsTer3
XM_006723730.4:c.2675_2678dup	XP_006723793.1:p.Val894IlefsTer3
XM_006723732.2:c.2576_2579dup	XP_006723795.1:p.Val861IlefsTer3
XM_006723733.1:c.2075_2078dup	XP_006723796.1:p.Val694IlefsTer3
XM_011528647.1:c.3023_3026dup	XP_011526949.1:p.Val1010IlefsTer3
XM_011528648.1:c.3020_3023dup	XP_011526950.1:p.Val1009IlefsTer3
XM_011528648.3:c.3020_3023dup	XP_011526950.1:p.Val1009IlefsTer3
XM_011528649.1:c.2939_2942dup	XP_011526951.1:p.Val982IlefsTer3
XM_011528650.1:c.2870_2873dup	XP_011526952.1:p.Val959IlefsTer3
XM_011528651.1:c.2738_2741dup	XP_011526953.1:p.Val915IlefsTer3
XM_011528652.1:c.2675_2678dup	XP_011526954.1:p.Val894IlefsTer3
XM_011528652.2:c.2675_2678dup	XP_011526954.1:p.Val894IlefsTer3
XM_017027704.1:c.2675_2678dup	XP_016883193.1:p.Val894IlefsTer3
XM_017027705.1:c.2675_2678dup	XP_016883194.1:p.Val894IlefsTer3
XM_017027706.1:c.2606_2609dup	XP_016883195.1:p.Val871IlefsTer3