Canonical Allele Identifier: CA2564321228

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436440_32436448del , CM000682.2:g.32436440_32436448del	GRCh38
NC_000020.10:g.31024243_31024251del , CM000682.1:g.31024243_31024251del	GRCh37
NC_000020.9:g.30487904_30487912del	NCBI36
NG_027868.1:g.83097_83105del , LRG_630:g.83097_83105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3728_3736del MANE Select	ENSP00000364839.4:p.Gln1243_Val1246delinsLeu
ENST00000646985.1:c.3545_3553del	ENSP00000495053.1:p.Gln1182_Val1185delinsLeu
ENST00000647223.1:n.6081_6089del
ENST00000651418.1:c.1869+1859_1869+1867del	ENSP00000499150.1:n.1869+1859_1869+1867del
ENST00000306058.9:c.3713_3721del	ENSP00000305119.5:p.Gln1238_Val1241delinsLeu
ENST00000375687.8:c.3728_3736del	ENSP00000364839.4:p.Gln1243_Val1246delinsLeu
ENST00000613218.4:c.3728_3736del	ENSP00000480487.1:p.Gln1243_Val1246delinsLeu
ENST00000620121.4:c.3728_3736del	ENSP00000481978.1:p.Gln1243_Val1246delinsLeu
NM_015338.5:c.3728_3736del , LRG_630t1:c.3728_3736del	NP_056153.2:p.Gln1243_Val1246delinsLeu
XM_006723727.2:c.3725_3733del	XP_006723790.1:p.Gln1242_Val1245delinsLeu
XM_006723728.2:c.3698_3706del	XP_006723791.1:p.Gln1233_Val1236delinsLeu
XM_006723730.2:c.3644_3652del	XP_006723793.1:p.Gln1215_Val1218delinsLeu
XM_006723732.2:c.3545_3553del	XP_006723795.1:p.Gln1182_Val1185delinsLeu
XM_006723733.1:c.3044_3052del	XP_006723796.1:p.Gln1015_Val1018delinsLeu
XM_011528647.1:c.3992_4000del	XP_011526949.1:p.Gln1331_Val1334delinsLeu
XM_011528648.1:c.3989_3997del	XP_011526950.1:p.Gln1330_Val1333delinsLeu
XM_011528649.1:c.3908_3916del	XP_011526951.1:p.Gln1303_Val1306delinsLeu
XM_011528650.1:c.3839_3847del	XP_011526952.1:p.Gln1280_Val1283delinsLeu
XM_011528651.1:c.3707_3715del	XP_011526953.1:p.Gln1236_Val1239delinsLeu
XM_011528652.1:c.3644_3652del	XP_011526954.1:p.Gln1215_Val1218delinsLeu
NM_001363734.1:c.3545_3553del	NP_001350663.1:p.Gln1182_Val1185delinsLeu
XM_006723727.3:c.3725_3733del	XP_006723790.1:p.Gln1242_Val1245delinsLeu
XM_006723728.3:c.3698_3706del	XP_006723791.1:p.Gln1233_Val1236delinsLeu
XM_006723730.4:c.3644_3652del	XP_006723793.1:p.Gln1215_Val1218delinsLeu
XM_011528648.3:c.3989_3997del	XP_011526950.1:p.Gln1330_Val1333delinsLeu
XM_011528652.2:c.3644_3652del	XP_011526954.1:p.Gln1215_Val1218delinsLeu
XM_017027704.1:c.3644_3652del	XP_016883193.1:p.Gln1215_Val1218delinsLeu
XM_017027705.1:c.3644_3652del	XP_016883194.1:p.Gln1215_Val1218delinsLeu
XM_017027706.1:c.3575_3583del	XP_016883195.1:p.Gln1192_Val1195delinsLeu
NM_015338.6:c.3728_3736del MANE Select	NP_056153.2:p.Gln1243_Val1246delinsLeu