Canonical Allele Identifier: CA150802745

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 1443142
• ClinVar RCV Id: RCV001987437
• dbSNP Id: rs939602554
• gnomAD v2: 6-157099720-G-GGGC
• gnomAD v3: 6-156778586-G-GGGC
• gnomAD v4: 6-156778586-G-GGGC
• MyVariant Identifiers: chr6:g.157099723_157099724insGGC (hg19) ; chr6:g.157099720_157099721insGGC (hg19) ; chr6:g.156778589_156778590insGGC (hg38) ; chr6:g.156778586_156778587insGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.156778596_156778598dup , CM000668.2:g.156778596_156778598dup	GRCh38
NC_000006.11:g.157099730_157099732dup , CM000668.1:g.157099730_157099732dup	GRCh37
NC_000006.10:g.157141422_157141424dup	NCBI36
NG_032093.1:g.5667_5669dup
NG_032093.2:g.5667_5669dup
NG_066624.1:g.7571_7573dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000350026.11:c.916_918dup	ENSP00000055163.8:p.Gly306_Pro307insGly
ENST00000414678.8:c.916_918dup	ENSP00000412835.3:p.Gly306_Pro307insGly
ENST00000637015.2:c.916_918dup	ENSP00000489729.2:p.Gly306_Pro307insGly
ENST00000346085.10:c.916_918dup	ENSP00000344546.5:p.Gly306_Pro307insGly
ENST00000350026.10:c.667_669dup	ENSP00000055163.7:p.Gly223_Pro224insGly
ENST00000636930.2:c.916_918dup MANE Select	ENSP00000490491.2:p.Gly306_Pro307insGly
ENST00000647938.1:c.667_669dup	ENSP00000498155.1:p.Gly223_Pro224insGly
ENST00000674298.1:c.656_658dup
ENST00000346085.9:c.667_669dup	ENSP00000344546.4:p.Gly223_Pro224insGly
ENST00000350026.9:c.667_669dup	ENSP00000055163.7:p.Gly223_Pro224insGly
NM_017519.2:c.667_669dup	NP_059989.2:p.Gly223_Pro224insGly
NM_020732.3:c.667_669dup	NP_065783.3:p.Gly223_Pro224insGly
XM_005267069.3:c.667_669dup	XP_005267126.2:p.Gly223_Pro224insGly
NM_001346813.1:c.667_669dup	NP_001333742.1:p.Gly223_Pro224insGly
XM_011535984.2:c.667_669dup	XP_011534286.2:p.Gly223_Pro224insGly
XM_017011103.2:c.667_669dup	XP_016866592.1:p.Gly223_Pro224insGly
XM_017011104.1:c.667_669dup	XP_016866593.1:p.Gly223_Pro224insGly
XM_017011105.2:c.667_669dup	XP_016866594.1:p.Gly223_Pro224insGly
XM_017011106.2:c.667_669dup	XP_016866595.1:p.Gly223_Pro224insGly
XM_017011107.2:c.667_669dup	XP_016866596.1:p.Gly223_Pro224insGly
XR_002956289.1:n.750_752dup
NM_001371656.1:c.916_918dup	NP_001358585.1:p.Gly306_Pro307insGly
NM_001374820.1:c.916_918dup	NP_001361749.1:p.Gly306_Pro307insGly
NM_001374828.1:c.916_918dup MANE Select	NP_001361757.1:p.Gly306_Pro307insGly
NM_017519.3:c.916_918dup	NP_059989.3:p.Gly306_Pro307insGly