Canonical Allele Identifier: CA2294858080

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 1690931
• ClinVar RCV Id: RCV002252523
• dbSNP Id: rs1688963159

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33744304_33744309del , CM000680.2:g.33744304_33744309del	GRCh38
NC_000018.9:g.31324268_31324273del , CM000680.1:g.31324268_31324273del	GRCh37
NC_000018.8:g.29578266_29578271del	NCBI36
NG_055244.1:g.170728_170733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.4459_4464del	ENSP00000513003.1:p.Ser1487_Leu1488del
ENST00000269197.12:c.4456_4461del MANE Select	ENSP00000269197.4:p.Ser1486_Leu1487del
ENST00000681521.1:c.4336_4341del	ENSP00000506037.1:p.Ser1446_Leu1447del
ENST00000269197.9:c.4456_4461del	ENSP00000269197.4:p.Ser1486_Leu1487del
NM_030632.1:c.4456_4461del	NP_085135.1:p.Ser1486_Leu1487del
XM_005258356.1:c.4459_4464del	XP_005258413.1:p.Ser1487_Leu1488del
XM_011526205.1:c.4432_4437del	XP_011524507.1:p.Ser1478_Leu1479del
XM_011526206.1:c.4378_4383del	XP_011524508.1:p.Ser1460_Leu1461del
XM_011526207.1:c.4378_4383del	XP_011524509.1:p.Ser1460_Leu1461del
XM_011526208.1:c.4339_4344del	XP_011524510.1:p.Ser1447_Leu1448del
XM_011526209.1:c.4288_4293del	XP_011524511.1:p.Ser1430_Leu1431del
XM_011526210.1:c.4288_4293del	XP_011524512.1:p.Ser1430_Leu1431del
XM_011526211.1:c.4288_4293del	XP_011524513.1:p.Ser1430_Leu1431del
XM_011526212.1:c.4288_4293del	XP_011524514.1:p.Ser1430_Leu1431del
XM_011526213.1:c.4288_4293del	XP_011524515.1:p.Ser1430_Leu1431del
XM_011526214.1:c.4288_4293del	XP_011524516.1:p.Ser1430_Leu1431del
XM_011526215.1:c.1420_1425del	XP_011524517.1:p.Ser474_Leu475del
NM_030632.2:c.4456_4461del	NP_085135.1:p.Ser1486_Leu1487del
XM_011526205.2:c.4432_4437del	XP_011524507.1:p.Ser1478_Leu1479del
XM_011526206.2:c.4378_4383del	XP_011524508.1:p.Ser1460_Leu1461del
XM_011526213.2:c.4288_4293del	XP_011524515.1:p.Ser1430_Leu1431del
XM_017026012.1:c.4378_4383del	XP_016881501.1:p.Ser1460_Leu1461del
XM_017026013.1:c.4288_4293del	XP_016881502.1:p.Ser1430_Leu1431del
XM_017026014.2:c.4288_4293del	XP_016881503.1:p.Ser1430_Leu1431del
XM_024451269.1:c.4288_4293del	XP_024307037.1:p.Ser1430_Leu1431del
NM_030632.3:c.4456_4461del MANE Select	NP_085135.1:p.Ser1486_Leu1487del