Canonical Allele Identifier: CA913191247

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 633550
• ClinVar RCV Id: RCV000782059
• dbSNP Id: rs1599574430

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33744453_33744454dup , CM000680.2:g.33744453_33744454dup	GRCh38
NC_000018.9:g.31324417_31324418dup , CM000680.1:g.31324417_31324418dup	GRCh37
NC_000018.8:g.29578415_29578416dup	NCBI36
NG_055244.1:g.170877_170878dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.4608_4609dup	ENSP00000513003.1:p.Ser1537ThrfsTer?
ENST00000269197.12:c.4605_4606dup MANE Select	ENSP00000269197.4:p.Ser1536ThrfsTer?
ENST00000681521.1:c.4485_4486dup	ENSP00000506037.1:p.Ser1496ThrfsTer?
ENST00000269197.9:c.4605_4606dup	ENSP00000269197.4:p.Ser1536ThrfsTer?
NM_030632.1:c.4605_4606dup	NP_085135.1:p.Ser1536ThrfsTer?
XM_005258356.1:c.4608_4609dup	XP_005258413.1:p.Ser1537ThrfsTer?
XM_011526205.1:c.4581_4582dup	XP_011524507.1:p.Ser1528ThrfsTer?
XM_011526206.1:c.4527_4528dup	XP_011524508.1:p.Ser1510ThrfsTer?
XM_011526207.1:c.4527_4528dup	XP_011524509.1:p.Ser1510ThrfsTer?
XM_011526208.1:c.4488_4489dup	XP_011524510.1:p.Ser1497ThrfsTer?
XM_011526209.1:c.4437_4438dup	XP_011524511.1:p.Ser1480ThrfsTer?
XM_011526210.1:c.4437_4438dup	XP_011524512.1:p.Ser1480ThrfsTer?
XM_011526211.1:c.4437_4438dup	XP_011524513.1:p.Ser1480ThrfsTer?
XM_011526212.1:c.4437_4438dup	XP_011524514.1:p.Ser1480ThrfsTer?
XM_011526213.1:c.4437_4438dup	XP_011524515.1:p.Ser1480ThrfsTer?
XM_011526214.1:c.4437_4438dup	XP_011524516.1:p.Ser1480ThrfsTer?
XM_011526215.1:c.1569_1570dup	XP_011524517.1:p.Ser524ThrfsTer?
NM_030632.2:c.4605_4606dup	NP_085135.1:p.Ser1536ThrfsTer?
XM_011526205.2:c.4581_4582dup	XP_011524507.1:p.Ser1528ThrfsTer?
XM_011526206.2:c.4527_4528dup	XP_011524508.1:p.Ser1510ThrfsTer?
XM_011526213.2:c.4437_4438dup	XP_011524515.1:p.Ser1480ThrfsTer?
XM_017026012.1:c.4527_4528dup	XP_016881501.1:p.Ser1510ThrfsTer?
XM_017026013.1:c.4437_4438dup	XP_016881502.1:p.Ser1480ThrfsTer?
XM_017026014.2:c.4437_4438dup	XP_016881503.1:p.Ser1480ThrfsTer?
XM_024451269.1:c.4437_4438dup	XP_024307037.1:p.Ser1480ThrfsTer?
NM_030632.3:c.4605_4606dup MANE Select	NP_085135.1:p.Ser1536ThrfsTer?