Canonical Allele Identifier: CA629454132

Gene: ASXL3

Linked Data

• dbSNP Id: rs1388841616
• gnomAD v2: 18-31323073-GGGAAGTCCA-G
• gnomAD v3: 18-33743109-GGGAAGTCCA-G
• gnomAD v4: 18-33743109-GGGAAGTCCA-G
• MyVariant Identifiers: chr18:g.31323074_31323082del (hg19) ; chr18:g.33743110_33743118del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33743113_33743121del , CM000680.2:g.33743113_33743121del	GRCh38
NC_000018.9:g.31323077_31323085del , CM000680.1:g.31323077_31323085del	GRCh37
NC_000018.8:g.29577075_29577083del	NCBI36
NG_055244.1:g.169537_169545del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696964.1:c.3268_3276del	ENSP00000513003.1:p.Ser1090_Gly1092del
ENST00000269197.12:c.3265_3273del MANE Select	ENSP00000269197.4:p.Ser1089_Gly1091del
ENST00000592288.6:c.*2389_*2397del	ENSP00000465053.1:n.*2389_*2397del
ENST00000592541.6:c.*2924_*2932del	ENSP00000466655.2:n.*2924_*2932del
ENST00000593195.6:c.3477_3485del	ENSP00000466073.1:n.3477_3485del
ENST00000642541.1:c.3097_3105del	ENSP00000493665.1:p.Ser1033_Gly1035del
ENST00000681521.1:c.3145_3153del	ENSP00000506037.1:p.Ser1049_Gly1051del
ENST00000269197.9:c.3265_3273del	ENSP00000269197.4:p.Ser1089_Gly1091del
ENST00000592288.5:c.*2389_*2397del	ENSP00000465053.1:n.*2389_*2397del
NM_030632.1:c.3265_3273del	NP_085135.1:p.Ser1089_Gly1091del
XM_005258356.1:c.3268_3276del	XP_005258413.1:p.Ser1090_Gly1092del
XM_011526205.1:c.3241_3249del	XP_011524507.1:p.Ser1081_Gly1083del
XM_011526206.1:c.3187_3195del	XP_011524508.1:p.Ser1063_Gly1065del
XM_011526207.1:c.3187_3195del	XP_011524509.1:p.Ser1063_Gly1065del
XM_011526208.1:c.3148_3156del	XP_011524510.1:p.Ser1050_Gly1052del
XM_011526209.1:c.3097_3105del	XP_011524511.1:p.Ser1033_Gly1035del
XM_011526210.1:c.3097_3105del	XP_011524512.1:p.Ser1033_Gly1035del
XM_011526211.1:c.3097_3105del	XP_011524513.1:p.Ser1033_Gly1035del
XM_011526212.1:c.3097_3105del	XP_011524514.1:p.Ser1033_Gly1035del
XM_011526213.1:c.3097_3105del	XP_011524515.1:p.Ser1033_Gly1035del
XM_011526214.1:c.3097_3105del	XP_011524516.1:p.Ser1033_Gly1035del
XM_011526215.1:c.229_237del	XP_011524517.1:p.Ser77_Gly79del
NM_030632.2:c.3265_3273del	NP_085135.1:p.Ser1089_Gly1091del
XM_011526205.2:c.3241_3249del	XP_011524507.1:p.Ser1081_Gly1083del
XM_011526206.2:c.3187_3195del	XP_011524508.1:p.Ser1063_Gly1065del
XM_011526213.2:c.3097_3105del	XP_011524515.1:p.Ser1033_Gly1035del
XM_017026012.1:c.3187_3195del	XP_016881501.1:p.Ser1063_Gly1065del
XM_017026013.1:c.3097_3105del	XP_016881502.1:p.Ser1033_Gly1035del
XM_017026014.2:c.3097_3105del	XP_016881503.1:p.Ser1033_Gly1035del
XM_024451269.1:c.3097_3105del	XP_024307037.1:p.Ser1033_Gly1035del
NM_030632.3:c.3265_3273del MANE Select	NP_085135.1:p.Ser1089_Gly1091del