Canonical Allele Identifier: CA1139666030

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 984869
• ClinVar RCV Id: RCV001265435
• dbSNP Id: rs2067695956

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33743222_33743225dup , CM000680.2:g.33743222_33743225dup	GRCh38
NC_000018.9:g.31323186_31323189dup , CM000680.1:g.31323186_31323189dup	GRCh37
NC_000018.8:g.29577184_29577187dup	NCBI36
NG_055244.1:g.169646_169649dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696964.1:c.3377_3380dup	ENSP00000513003.1:p.Thr1128ArgfsTer24
ENST00000269197.12:c.3374_3377dup MANE Select	ENSP00000269197.4:p.Thr1127ArgfsTer24
ENST00000592288.6:c.*2498_*2501dup	ENSP00000465053.1:n.*2498_*2501dup
ENST00000592541.6:c.*3033_*3036dup	ENSP00000466655.2:n.*3033_*3036dup
ENST00000593195.6:c.3586_3589dup	ENSP00000466073.1:n.3586_3589dup
ENST00000642541.1:c.3206_3209dup	ENSP00000493665.1:p.Thr1071ArgfsTer24
ENST00000681521.1:c.3254_3257dup	ENSP00000506037.1:p.Thr1087ArgfsTer24
ENST00000269197.9:c.3374_3377dup	ENSP00000269197.4:p.Thr1127ArgfsTer24
ENST00000592288.5:c.*2498_*2501dup	ENSP00000465053.1:n.*2498_*2501dup
NM_030632.1:c.3374_3377dup	NP_085135.1:p.Thr1127ArgfsTer24
XM_005258356.1:c.3377_3380dup	XP_005258413.1:p.Thr1128ArgfsTer24
XM_011526205.1:c.3350_3353dup	XP_011524507.1:p.Thr1119ArgfsTer24
XM_011526206.1:c.3296_3299dup	XP_011524508.1:p.Thr1101ArgfsTer24
XM_011526207.1:c.3296_3299dup	XP_011524509.1:p.Thr1101ArgfsTer24
XM_011526208.1:c.3257_3260dup	XP_011524510.1:p.Thr1088ArgfsTer24
XM_011526209.1:c.3206_3209dup	XP_011524511.1:p.Thr1071ArgfsTer24
XM_011526210.1:c.3206_3209dup	XP_011524512.1:p.Thr1071ArgfsTer24
XM_011526211.1:c.3206_3209dup	XP_011524513.1:p.Thr1071ArgfsTer24
XM_011526212.1:c.3206_3209dup	XP_011524514.1:p.Thr1071ArgfsTer24
XM_011526213.1:c.3206_3209dup	XP_011524515.1:p.Thr1071ArgfsTer24
XM_011526214.1:c.3206_3209dup	XP_011524516.1:p.Thr1071ArgfsTer24
XM_011526215.1:c.338_341dup	XP_011524517.1:p.Thr115ArgfsTer24
NM_030632.2:c.3374_3377dup	NP_085135.1:p.Thr1127ArgfsTer24
XM_011526205.2:c.3350_3353dup	XP_011524507.1:p.Thr1119ArgfsTer24
XM_011526206.2:c.3296_3299dup	XP_011524508.1:p.Thr1101ArgfsTer24
XM_011526213.2:c.3206_3209dup	XP_011524515.1:p.Thr1071ArgfsTer24
XM_017026012.1:c.3296_3299dup	XP_016881501.1:p.Thr1101ArgfsTer24
XM_017026013.1:c.3206_3209dup	XP_016881502.1:p.Thr1071ArgfsTer24
XM_017026014.2:c.3206_3209dup	XP_016881503.1:p.Thr1071ArgfsTer24
XM_024451269.1:c.3206_3209dup	XP_024307037.1:p.Thr1071ArgfsTer24
NM_030632.3:c.3374_3377dup MANE Select	NP_085135.1:p.Thr1127ArgfsTer24