Canonical Allele Identifier: CA6452213
Gene: PRB3 HGNC NCBI

Linked Data

dbSNP Id: rs763309024
ExAC: 12:11420934 TG / T
gnomAD v2: 12-11420934-TG-T
gnomAD v3: 12-11268000-TG-T
gnomAD v4: 12-11268000-TG-T
COSMIC: COSM294719
MyVariant Identifiers: chr12:g.11420935del (hg19) chr12:g.11268001del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.11268005del , CM000674.2:g.11268005del GRCh38
NC_000012.11:g.11420939del , CM000674.1:g.11420939del GRCh37
NC_000012.10:g.11312206del NCBI36
NG_013305.2:g.6707del

Transcript Alleles

HGVS Amino-acid change
ENST00000538488.3:c.248del MANE Select ENSP00000442626.2:p.Pro83HisfsTer?
ENST00000381842.7:c.248del ENSP00000371264.3:p.Pro83HisfsTer?
ENST00000538488.2:c.248del ENSP00000442626.2:p.Pro83HisfsTer?
ENST00000539835.1:n.255del
NM_006249.5:c.248del NP_006240.4:p.Pro83HisfsTer?
NM_001394862.1:c.248del MANE Select NP_001381791.1:p.Pro83HisfsTer?
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