Canonical Allele Identifier: CA1139659887
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 950787
ClinVar RCV Id: RCV001222576
dbSNP Id: rs1789997179

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157148905dup , CM000668.2:g.157148905dup GRCh38
NC_000006.11:g.157470039dup , CM000668.1:g.157470039dup GRCh37
NC_000006.10:g.157511731dup NCBI36
NG_032093.1:g.375976dup
NG_032093.2:g.375976dup
NG_066624.1:g.377880dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000350026.11:c.3043dup ENSP00000055163.8:p.Ala1015GlyfsTer?
ENST00000414678.8:c.2953dup ENSP00000412835.3:p.Ala985GlyfsTer?
ENST00000637015.2:c.3043dup ENSP00000489729.2:p.Ala1015GlyfsTer21
ENST00000319584.11:c.1057dup ENSP00000313006.7:p.Ala353GlyfsTer?
ENST00000346085.10:c.3082dup ENSP00000344546.5:p.Ala1028GlyfsTer?
ENST00000350026.10:c.2794dup ENSP00000055163.7:p.Ala932GlyfsTer?
ENST00000414678.7:c.1201dup ENSP00000412835.2:p.Ala401GlyfsTer?
ENST00000452544.2:n.944dup
ENST00000635849.1:c.364dup ENSP00000490948.1:p.Ala122GlyfsTer?
ENST00000636426.1:n.177dup
ENST00000636930.2:c.3043dup MANE Select ENSP00000490491.2:p.Ala1015GlyfsTer?
ENST00000637015.1:c.282dup
ENST00000637568.1:c.86dup
ENST00000637810.1:c.544dup ENSP00000489636.1:p.Ala182GlyfsTer?
ENST00000637904.1:c.544dup ENSP00000490550.1:p.Ala182GlyfsTer?
ENST00000647938.1:c.2833dup ENSP00000498155.1:p.Ala945GlyfsTer?
ENST00000674190.1:n.1792dup
ENST00000319584.10:c.1060dup ENSP00000313006.6:p.Ala354GlyfsTer?
ENST00000346085.9:c.2833dup ENSP00000344546.4:p.Ala945GlyfsTer?
ENST00000350026.9:c.2794dup ENSP00000055163.7:p.Ala932GlyfsTer?
ENST00000414678.6:c.1201dup ENSP00000412835.2:p.Ala401GlyfsTer?
ENST00000452544.1:n.890dup
ENST00000478761.3:c.116dup
NM_017519.2:c.2794dup NP_059989.2:p.Ala932GlyfsTer?
NM_020732.3:c.2833dup NP_065783.3:p.Ala945GlyfsTer?
XM_005267069.3:c.2794dup XP_005267126.2:p.Ala932GlyfsTer?
XM_011535984.1:c.1744dup XP_011534286.1:p.Ala582GlyfsTer21
XM_011535985.1:c.1564dup XP_011534287.1:p.Ala522GlyfsTer21
XM_011535986.1:c.1324dup XP_011534288.1:p.Ala442GlyfsTer21
XM_011535987.1:c.943dup XP_011534289.1:p.Ala315GlyfsTer21
XM_011535988.1:c.-20+15698dup XP_011534290.1:n.-20+15698dup
NM_001346813.1:c.2794dup NP_001333742.1:p.Ala932GlyfsTer?
NM_001363725.1:c.544dup NP_001350654.1:p.Ala182GlyfsTer?
XM_011535984.2:c.2875dup XP_011534286.2:p.Ala959GlyfsTer21
XM_011535988.3:c.-20+15698dup XP_011534290.1:n.-20+15698dup
XM_017011103.2:c.2875dup XP_016866592.1:p.Ala959GlyfsTer?
XM_017011104.1:c.2875dup XP_016866593.1:p.Ala959GlyfsTer?
XM_017011105.2:c.2875dup XP_016866594.1:p.Ala959GlyfsTer21
XM_017011106.2:c.2875dup XP_016866595.1:p.Ala959GlyfsTer?
XM_017011107.2:c.2695dup XP_016866596.1:p.Ala899GlyfsTer?
XR_002956289.1:n.2958dup
NM_001363725.2:c.544dup NP_001350654.1:p.Ala182GlyfsTer?
NM_001371656.1:c.3082dup NP_001358585.1:p.Ala1028GlyfsTer?
NM_001374820.1:c.3082dup NP_001361749.1:p.Ala1028GlyfsTer?
NM_001374828.1:c.3043dup MANE Select NP_001361757.1:p.Ala1015GlyfsTer?
NM_017519.3:c.3043dup NP_059989.3:p.Ala1015GlyfsTer?