Canonical Allele Identifier: CA4066649

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 434350
• ClinVar RCV Id: RCV000501549 ; RCV002056838 ; RCV002455965 ; RCV003972824
• dbSNP Id: rs762617219
• ExAC: 6:157099405 GCAGCAGCAGCAGCAGCAGCAA / G
• gnomAD v2: 6-157099405-GCAGCAGCAGCAGCAGCAGCAA-G
• gnomAD v3: 6-156778271-GCAGCAGCAGCAGCAGCAGCAA-G
• gnomAD v4: 6-156778271-GCAGCAGCAGCAGCAGCAGCAA-G
• MyVariant Identifiers: chr6:g.157099426_157099446del (hg19) ; chr6:g.157099406_157099426del (hg19) ; chr6:g.156778292_156778312del (hg38) ; chr6:g.156778272_156778292del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.156778292_156778312del , CM000668.2:g.156778292_156778312del	GRCh38
NC_000006.11:g.157099426_157099446del , CM000668.1:g.157099426_157099446del	GRCh37
NC_000006.10:g.157141118_157141138del	NCBI36
NG_032093.1:g.5363_5383del
NG_032093.2:g.5363_5383del
NG_066624.1:g.7267_7287del

Transcript Alleles

HGVS	Amino-acid change
ENST00000350026.11:c.612_632del	ENSP00000055163.8:p.Gln205_Gln211del
ENST00000414678.8:c.612_632del	ENSP00000412835.3:p.Gln205_Gln211del
ENST00000637015.2:c.612_632del	ENSP00000489729.2:p.Gln205_Gln211del
ENST00000346085.10:c.612_632del	ENSP00000344546.5:p.Gln205_Gln211del
ENST00000350026.10:c.363_383del	ENSP00000055163.7:p.Gln122_Gln128del
ENST00000636930.2:c.612_632del MANE Select	ENSP00000490491.2:p.Gln205_Gln211del
ENST00000647938.1:c.363_383del	ENSP00000498155.1:p.Gln122_Gln128del
ENST00000674298.1:c.352_372del
ENST00000346085.9:c.363_383del	ENSP00000344546.4:p.Gln122_Gln128del
ENST00000350026.9:c.363_383del	ENSP00000055163.7:p.Gln122_Gln128del
NM_017519.2:c.363_383del	NP_059989.2:p.Gln122_Gln128del
NM_020732.3:c.363_383del	NP_065783.3:p.Gln122_Gln128del
XM_005267069.3:c.363_383del	XP_005267126.2:p.Gln122_Gln128del
XR_943148.1:n.131_151del
NM_001346813.1:c.363_383del	NP_001333742.1:p.Gln122_Gln128del
XM_011535984.2:c.363_383del	XP_011534286.2:p.Gln122_Gln128del
XM_017011103.2:c.363_383del	XP_016866592.1:p.Gln122_Gln128del
XM_017011104.1:c.363_383del	XP_016866593.1:p.Gln122_Gln128del
XM_017011105.2:c.363_383del	XP_016866594.1:p.Gln122_Gln128del
XM_017011106.2:c.363_383del	XP_016866595.1:p.Gln122_Gln128del
XM_017011107.2:c.363_383del	XP_016866596.1:p.Gln122_Gln128del
XR_002956289.1:n.446_466del
NM_001371656.1:c.612_632del	NP_001358585.1:p.Gln205_Gln211del
NM_001374820.1:c.612_632del	NP_001361749.1:p.Gln205_Gln211del
NM_001374828.1:c.612_632del MANE Select	NP_001361757.1:p.Gln205_Gln211del
NM_017519.3:c.612_632del	NP_059989.3:p.Gln205_Gln211del
NR_163974.1:n.227_247del