Canonical Allele Identifier: CA9264498
Gene: BRD4 HGNC NCBI
ClinVar RCV:
RCV002637721
ClinVar Variation:
2197471
dbSNP:
779654666
gnomAD v2:
19:15349681 TGCTGCTGCTGCTGTTGCTCCTGGC / T
gnomAD v3:
19:15238870 TGCTGCTGCTGCTGTTGCTCCTGGC / T
gnomAD v4:
chr19-15238870-TGCTGCTGCTGCTGTTGCTCCTGGC-T
Joint Max Group AF 0.00014956 (NFE)
Genomes Max Group AF 0.00005844 (NFE)
Exomes Max Group AF 0.00015161 (NFE)
MyVariant.info:
GRCh38 chr19:g.15238871_15238894del
GRCh37 chr19:g.15349682_15349705del
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15238884_15238907del , CM000681.2:g.15238884_15238907del GRCh38
NC_000019.9:g.15349695_15349718del , CM000681.1:g.15349695_15349718del GRCh37
NC_000019.8:g.15210695_15210718del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000679869.1:c.3869_3892del MANE Select ENSP00000506350.1:p.Arg1290_Gln1297del
ENST00000263377.6:c.3869_3892del ENSP00000263377.1:p.Arg1290_Gln1297del
NM_058243.2:c.3869_3892del NP_490597.1:p.Arg1290_Gln1297del
XM_011527854.1:c.3869_3892del XP_011526156.1:p.Arg1290_Gln1297del
XM_011527854.2:c.3869_3892del XP_011526156.1:p.Arg1290_Gln1297del
NM_001379291.1:c.3869_3892del MANE Select NP_001366220.1:p.Arg1290_Gln1297del
NM_058243.3:c.3869_3892del NP_490597.1:p.Arg1290_Gln1297del
Search 100 bp 5'
Search 100 bp 3'