Canonical Allele Identifier: CA342790
Gene: POLR3B HGNC NCBI

Linked Data

ClinVar Variation Id: 31165
ClinVar RCV Id: RCV000024161
dbSNP Id: rs267608684
ExAC: 12:106826162 AT / A
gnomAD v2: 12-106826162-AT-A
gnomAD v3: 12-106432384-AT-A
gnomAD v4: 12-106432384-AT-A
MyVariant Identifiers: chr12:g.106826164del (hg19) chr12:g.106826163del (hg19) chr12:g.106432386del (hg38) chr12:g.106432385del (hg38)
PubMed: PMID:22036172 PMID:22855961
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.106432386del , CM000674.2:g.106432386del GRCh38
NC_000012.11:g.106826164del , CM000674.1:g.106826164del GRCh37
NC_000012.10:g.105350294del NCBI36
NG_031837.1:g.79729del

Transcript Alleles

HGVS Amino-acid Change
ENST00000228347.9:c.1533del MANE Select ENSP00000228347.4:p.Ile511MetfsTer4
ENST00000228347.8:c.1533del ENSP00000228347.4:p.Ile511MetfsTer4
ENST00000539066.5:c.1359del ENSP00000445721.1:p.Ile453MetfsTer4
NM_001160708.1:c.1359del NP_001154180.1:p.Ile453MetfsTer4
NM_018082.5:c.1533del NP_060552.4:p.Ile511MetfsTer4
XM_017019621.2:c.1533del XP_016875110.1:p.Ile511MetfsTer4
NM_018082.6:c.1533del MANE Select NP_060552.4:p.Ile511MetfsTer4
NM_001160708.2:c.1359del NP_001154180.1:p.Ile453MetfsTer4
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