Canonical Allele Identifier: CA645564740

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 1356846
• ClinVar RCV Id: RCV001880529
• dbSNP Id: rs1289067120
• gnomAD v4: 6-157189671-AC-A
• COSMIC: COSM4748044 ; COSM4748045
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157189677del , CM000668.2:g.157189677del	GRCh38
NC_000006.11:g.157510811del , CM000668.1:g.157510811del	GRCh37
NC_000006.10:g.157552503del	NCBI36
NG_032093.1:g.416748del
NG_032093.2:g.416748del
NG_066624.1:g.418652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350026.11:c.3796del	ENSP00000055163.8:p.Gln1266SerfsTer15
ENST00000414678.8:c.3865del	ENSP00000412835.3:p.Gln1289SerfsTer15
ENST00000637015.2:c.4084del	ENSP00000489729.2:p.Gln1362SerfsTer15
ENST00000346085.10:c.3835del	ENSP00000344546.5:p.Gln1279SerfsTer15
ENST00000350026.10:c.3547del	ENSP00000055163.7:p.Gln1183SerfsTer15
ENST00000414678.7:c.2113del	ENSP00000412835.2:p.Gln705SerfsTer15
ENST00000635849.1:c.1276del	ENSP00000490948.1:p.Gln426SerfsTer15
ENST00000635957.1:c.910del	ENSP00000490385.1:p.Gln304SerfsTer15
ENST00000636930.2:c.3955del MANE Select	ENSP00000490491.2:p.Gln1319SerfsTer15
ENST00000636940.1:n.1952del
ENST00000637015.1:c.1323del
ENST00000637568.1:c.1237del
ENST00000637741.1:n.621del
ENST00000637810.1:c.1297del	ENSP00000489636.1:p.Gln433SerfsTer15
ENST00000637904.1:c.1456del	ENSP00000490550.1:p.Gln486SerfsTer15
ENST00000647938.1:c.3586del	ENSP00000498155.1:p.Gln1196SerfsTer15
ENST00000346085.9:c.3586del	ENSP00000344546.4:p.Gln1196SerfsTer15
ENST00000350026.9:c.3547del	ENSP00000055163.7:p.Gln1183SerfsTer15
ENST00000414678.6:c.2113del	ENSP00000412835.2:p.Gln705SerfsTer15
NM_017519.2:c.3547del	NP_059989.2:p.Gln1183SerfsTer15
NM_020732.3:c.3586del	NP_065783.3:p.Gln1196SerfsTer15
XM_005267069.3:c.3706del	XP_005267126.2:p.Gln1236SerfsTer15
XM_011535984.1:c.2785del	XP_011534286.1:p.Gln929SerfsTer15
XM_011535985.1:c.2605del	XP_011534287.1:p.Gln869SerfsTer15
XM_011535986.1:c.2365del	XP_011534288.1:p.Gln789SerfsTer15
XM_011535987.1:c.1984del	XP_011534289.1:p.Gln662SerfsTer15
XM_011535988.1:c.847del	XP_011534290.1:p.Gln283SerfsTer15
NM_001346813.1:c.3706del	NP_001333742.1:p.Gln1236SerfsTer15
NM_001363725.1:c.1456del	NP_001350654.1:p.Gln486SerfsTer15
XM_011535984.2:c.3916del	XP_011534286.2:p.Gln1306SerfsTer15
XM_011535988.3:c.847del	XP_011534290.1:p.Gln283SerfsTer15
XM_017011103.2:c.3817del	XP_016866592.1:p.Gln1273SerfsTer15
XM_017011104.1:c.3787del	XP_016866593.1:p.Gln1263SerfsTer15
XM_017011105.2:c.3757del	XP_016866594.1:p.Gln1253SerfsTer15
XM_017011106.2:c.3628del	XP_016866595.1:p.Gln1210SerfsTer15
XM_017011107.2:c.3607del	XP_016866596.1:p.Gln1203SerfsTer15
XR_002956289.1:n.3999del
NM_001363725.2:c.1456del	NP_001350654.1:p.Gln486SerfsTer15
NM_001371656.1:c.3835del	NP_001358585.1:p.Gln1279SerfsTer15
NM_001374820.1:c.3835del	NP_001361749.1:p.Gln1279SerfsTer15
NM_001374828.1:c.3955del MANE Select	NP_001361757.1:p.Gln1319SerfsTer15
NM_017519.3:c.3796del	NP_059989.3:p.Gln1266SerfsTer15