Canonical Allele Identifier: CA2535609441

Gene: ASXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33743788_33743791del , CM000680.2:g.33743788_33743791del	GRCh38
NC_000018.9:g.31323752_31323755del , CM000680.1:g.31323752_31323755del	GRCh37
NC_000018.8:g.29577750_29577753del	NCBI36
NG_055244.1:g.170212_170215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.3943_3946del	ENSP00000513003.1:p.Ile1315GlnfsTer10
ENST00000269197.12:c.3940_3943del MANE Select	ENSP00000269197.4:p.Ile1314GlnfsTer10
ENST00000681521.1:c.3820_3823del	ENSP00000506037.1:p.Ile1274GlnfsTer10
ENST00000269197.9:c.3940_3943del	ENSP00000269197.4:p.Ile1314GlnfsTer10
NM_030632.1:c.3940_3943del	NP_085135.1:p.Ile1314GlnfsTer10
XM_005258356.1:c.3943_3946del	XP_005258413.1:p.Ile1315GlnfsTer10
XM_011526205.1:c.3916_3919del	XP_011524507.1:p.Ile1306GlnfsTer10
XM_011526206.1:c.3862_3865del	XP_011524508.1:p.Ile1288GlnfsTer10
XM_011526207.1:c.3862_3865del	XP_011524509.1:p.Ile1288GlnfsTer10
XM_011526208.1:c.3823_3826del	XP_011524510.1:p.Ile1275GlnfsTer10
XM_011526209.1:c.3772_3775del	XP_011524511.1:p.Ile1258GlnfsTer10
XM_011526210.1:c.3772_3775del	XP_011524512.1:p.Ile1258GlnfsTer10
XM_011526211.1:c.3772_3775del	XP_011524513.1:p.Ile1258GlnfsTer10
XM_011526212.1:c.3772_3775del	XP_011524514.1:p.Ile1258GlnfsTer10
XM_011526213.1:c.3772_3775del	XP_011524515.1:p.Ile1258GlnfsTer10
XM_011526214.1:c.3772_3775del	XP_011524516.1:p.Ile1258GlnfsTer10
XM_011526215.1:c.904_907del	XP_011524517.1:p.Ile302GlnfsTer10
NM_030632.2:c.3940_3943del	NP_085135.1:p.Ile1314GlnfsTer10
XM_011526205.2:c.3916_3919del	XP_011524507.1:p.Ile1306GlnfsTer10
XM_011526206.2:c.3862_3865del	XP_011524508.1:p.Ile1288GlnfsTer10
XM_011526213.2:c.3772_3775del	XP_011524515.1:p.Ile1258GlnfsTer10
XM_017026012.1:c.3862_3865del	XP_016881501.1:p.Ile1288GlnfsTer10
XM_017026013.1:c.3772_3775del	XP_016881502.1:p.Ile1258GlnfsTer10
XM_017026014.2:c.3772_3775del	XP_016881503.1:p.Ile1258GlnfsTer10
XM_024451269.1:c.3772_3775del	XP_024307037.1:p.Ile1258GlnfsTer10
NM_030632.3:c.3940_3943del MANE Select	NP_085135.1:p.Ile1314GlnfsTer10