Canonical Allele Identifier: CA2580095659

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 1801819
• ClinVar RCV Id: RCV002463976

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33743742dup , CM000680.2:g.33743742dup	GRCh38
NC_000018.9:g.31323706dup , CM000680.1:g.31323706dup	GRCh37
NC_000018.8:g.29577704dup	NCBI36
NG_055244.1:g.170166dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.3897dup	ENSP00000513003.1:p.Cys1300MetfsTer3
ENST00000269197.12:c.3894dup MANE Select	ENSP00000269197.4:p.Cys1299MetfsTer3
ENST00000681521.1:c.3774dup	ENSP00000506037.1:p.Cys1259MetfsTer3
ENST00000269197.9:c.3894dup	ENSP00000269197.4:p.Cys1299MetfsTer3
NM_030632.1:c.3894dup	NP_085135.1:p.Cys1299MetfsTer3
XM_005258356.1:c.3897dup	XP_005258413.1:p.Cys1300MetfsTer3
XM_011526205.1:c.3870dup	XP_011524507.1:p.Cys1291MetfsTer3
XM_011526206.1:c.3816dup	XP_011524508.1:p.Cys1273MetfsTer3
XM_011526207.1:c.3816dup	XP_011524509.1:p.Cys1273MetfsTer3
XM_011526208.1:c.3777dup	XP_011524510.1:p.Cys1260MetfsTer3
XM_011526209.1:c.3726dup	XP_011524511.1:p.Cys1243MetfsTer3
XM_011526210.1:c.3726dup	XP_011524512.1:p.Cys1243MetfsTer3
XM_011526211.1:c.3726dup	XP_011524513.1:p.Cys1243MetfsTer3
XM_011526212.1:c.3726dup	XP_011524514.1:p.Cys1243MetfsTer3
XM_011526213.1:c.3726dup	XP_011524515.1:p.Cys1243MetfsTer3
XM_011526214.1:c.3726dup	XP_011524516.1:p.Cys1243MetfsTer3
XM_011526215.1:c.858dup	XP_011524517.1:p.Cys287MetfsTer3
NM_030632.2:c.3894dup	NP_085135.1:p.Cys1299MetfsTer3
XM_011526205.2:c.3870dup	XP_011524507.1:p.Cys1291MetfsTer3
XM_011526206.2:c.3816dup	XP_011524508.1:p.Cys1273MetfsTer3
XM_011526213.2:c.3726dup	XP_011524515.1:p.Cys1243MetfsTer3
XM_017026012.1:c.3816dup	XP_016881501.1:p.Cys1273MetfsTer3
XM_017026013.1:c.3726dup	XP_016881502.1:p.Cys1243MetfsTer3
XM_017026014.2:c.3726dup	XP_016881503.1:p.Cys1243MetfsTer3
XM_024451269.1:c.3726dup	XP_024307037.1:p.Cys1243MetfsTer3
NM_030632.3:c.3894dup MANE Select	NP_085135.1:p.Cys1299MetfsTer3