Canonical Allele Identifier: CA2577366315

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436349_32436352dup , CM000682.2:g.32436349_32436352dup	GRCh38
NC_000020.10:g.31024152_31024155dup , CM000682.1:g.31024152_31024155dup	GRCh37
NC_000020.9:g.30487813_30487816dup	NCBI36
NG_027868.1:g.83006_83009dup , LRG_630:g.83006_83009dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000375687.10:c.3637_3640dup MANE Select	ENSP00000364839.4:p.His1214ProfsTer12
ENST00000646985.1:c.3454_3457dup	ENSP00000495053.1:p.His1153ProfsTer12
ENST00000647223.1:n.5990_5993dup
ENST00000651418.1:c.1869+1768_1869+1771dup	ENSP00000499150.1:n.1869+1768_1869+1771du...
ENST00000306058.9:c.3622_3625dup	ENSP00000305119.5:p.His1209ProfsTer12
ENST00000375687.8:c.3637_3640dup	ENSP00000364839.4:p.His1214ProfsTer12
ENST00000613218.4:c.3637_3640dup	ENSP00000480487.1:p.His1214ProfsTer12
ENST00000620121.4:c.3637_3640dup	ENSP00000481978.1:p.His1214ProfsTer12
NM_015338.5:c.3637_3640dup , LRG_630t1:c.3637_3640dup	NP_056153.2:p.His1214ProfsTer12
XM_006723727.2:c.3634_3637dup	XP_006723790.1:p.His1213ProfsTer12
XM_006723728.2:c.3607_3610dup	XP_006723791.1:p.His1204ProfsTer12
XM_006723730.2:c.3553_3556dup	XP_006723793.1:p.His1186ProfsTer12
XM_006723732.2:c.3454_3457dup	XP_006723795.1:p.His1153ProfsTer12
XM_006723733.1:c.2953_2956dup	XP_006723796.1:p.His986ProfsTer12
XM_011528647.1:c.3901_3904dup	XP_011526949.1:p.His1302ProfsTer12
XM_011528648.1:c.3898_3901dup	XP_011526950.1:p.His1301ProfsTer12
XM_011528649.1:c.3817_3820dup	XP_011526951.1:p.His1274ProfsTer12
XM_011528650.1:c.3748_3751dup	XP_011526952.1:p.His1251ProfsTer12
XM_011528651.1:c.3616_3619dup	XP_011526953.1:p.His1207ProfsTer12
XM_011528652.1:c.3553_3556dup	XP_011526954.1:p.His1186ProfsTer12
NM_001363734.1:c.3454_3457dup	NP_001350663.1:p.His1153ProfsTer12
XM_006723727.3:c.3634_3637dup	XP_006723790.1:p.His1213ProfsTer12
XM_006723728.3:c.3607_3610dup	XP_006723791.1:p.His1204ProfsTer12
XM_006723730.4:c.3553_3556dup	XP_006723793.1:p.His1186ProfsTer12
XM_011528648.3:c.3898_3901dup	XP_011526950.1:p.His1301ProfsTer12
XM_011528652.2:c.3553_3556dup	XP_011526954.1:p.His1186ProfsTer12
XM_017027704.1:c.3553_3556dup	XP_016883193.1:p.His1186ProfsTer12
XM_017027705.1:c.3553_3556dup	XP_016883194.1:p.His1186ProfsTer12
XM_017027706.1:c.3484_3487dup	XP_016883195.1:p.His1163ProfsTer12
NM_015338.6:c.3637_3640dup MANE Select	NP_056153.2:p.His1214ProfsTer12