Canonical Allele Identifier: CA8933859

Gene: ASXL3

Linked Data

• dbSNP Id: rs771864210
• ExAC: 18:31319404 AAATATCTCC / A
• gnomAD v2: 18-31319404-AAATATCTCC-A
• gnomAD v4: 18-33739440-AAATATCTCC-A
• MyVariant Identifiers: chr18:g.31319405_31319413del (hg19) ; chr18:g.33739441_33739449del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739447_33739455del , CM000680.2:g.33739447_33739455del	GRCh38
NC_000018.9:g.31319411_31319419del , CM000680.1:g.31319411_31319419del	GRCh37
NC_000018.8:g.29573409_29573417del	NCBI36
NG_055244.1:g.165871_165879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.2046_2054del	ENSP00000513003.1:p.Pro683_Ser685del
ENST00000269197.12:c.2043_2051del MANE Select	ENSP00000269197.4:p.Pro682_Ser684del
ENST00000592288.6:c.*1167_*1175del	ENSP00000465053.1:n.*1167_*1175del
ENST00000592541.6:c.*1702_*1710del	ENSP00000466655.2:n.*1702_*1710del
ENST00000593195.6:c.2255_2263del	ENSP00000466073.1:n.2255_2263del
ENST00000642541.1:c.1875_1883del	ENSP00000493665.1:p.Pro626_Ser628del
ENST00000681521.1:c.1923_1931del	ENSP00000506037.1:p.Pro642_Ser644del
ENST00000269197.9:c.2043_2051del	ENSP00000269197.4:p.Pro682_Ser684del
ENST00000592288.5:c.*1167_*1175del	ENSP00000465053.1:n.*1167_*1175del
NM_030632.1:c.2043_2051del	NP_085135.1:p.Pro682_Ser684del
XM_005258356.1:c.2046_2054del	XP_005258413.1:p.Pro683_Ser685del
XM_011526205.1:c.2019_2027del	XP_011524507.1:p.Pro674_Ser676del
XM_011526206.1:c.1965_1973del	XP_011524508.1:p.Pro656_Ser658del
XM_011526207.1:c.1965_1973del	XP_011524509.1:p.Pro656_Ser658del
XM_011526208.1:c.1926_1934del	XP_011524510.1:p.Pro643_Ser645del
XM_011526209.1:c.1875_1883del	XP_011524511.1:p.Pro626_Ser628del
XM_011526210.1:c.1875_1883del	XP_011524512.1:p.Pro626_Ser628del
XM_011526211.1:c.1875_1883del	XP_011524513.1:p.Pro626_Ser628del
XM_011526212.1:c.1875_1883del	XP_011524514.1:p.Pro626_Ser628del
XM_011526213.1:c.1875_1883del	XP_011524515.1:p.Pro626_Ser628del
XM_011526214.1:c.1875_1883del	XP_011524516.1:p.Pro626_Ser628del
NM_030632.2:c.2043_2051del	NP_085135.1:p.Pro682_Ser684del
XM_011526205.2:c.2019_2027del	XP_011524507.1:p.Pro674_Ser676del
XM_011526206.2:c.1965_1973del	XP_011524508.1:p.Pro656_Ser658del
XM_011526213.2:c.1875_1883del	XP_011524515.1:p.Pro626_Ser628del
XM_017026012.1:c.1965_1973del	XP_016881501.1:p.Pro656_Ser658del
XM_017026013.1:c.1875_1883del	XP_016881502.1:p.Pro626_Ser628del
XM_017026014.2:c.1875_1883del	XP_016881503.1:p.Pro626_Ser628del
XM_024451269.1:c.1875_1883del	XP_024307037.1:p.Pro626_Ser628del
NM_030632.3:c.2043_2051del MANE Select	NP_085135.1:p.Pro682_Ser684del