Canonical Allele Identifier: CA276556
Gene: BRCA1 HGNC NCBI
NBR2 HGNC NCBI
BRCA Exchange:
Summary View CA276556
Pop AF ACMG Code (provisional) No code met (read depth, flags)
MyVariant.info:
GRCh38 chr17:g.43126899A>G
GRCh37 chr17:g.41278916A>G
gnomAD v2:
17:41278916 A / G
gnomAD v3:
17:43126899 A / G
gnomAD v4:
chr17-43126899-A-G
Joint Max Group AF 0.6805975 (AFR)
Genomes Max Group AF 0.6805975 (AFR)
ClinVar RCV:
RCV000191533
ClinVar Variation:
209587
dbSNP:
799908
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43126899A>G , CM000679.2:g.43126899A>G GRCh38
NC_000017.10:g.41278916A>G , CM000679.1:g.41278916A>G GRCh37
NC_000017.9:g.38532442A>G NCBI36
NG_005905.2:g.91085T>C , LRG_292:g.91085T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000634433.2:c.-19-2784T>C (BRCA1) ENSP00000489431.2:n.-19-2784T>C
ENST00000356906.7:n.131+1129A>G (NBR2)
ENST00000460115.5:n.161+1129A>G (NBR2)
ENST00000467245.5:n.127+1129A>G (NBR2)
ENST00000634433.1:c.-19-2784T>C (BRCA1) ENSP00000489431.1:n.-19-2784T>C
NR_003108.1:n.188+1129A>G (NBR2)
NR_003108.2:n.214+1129A>G (NBR2)
NR_138145.1:n.214+1129A>G (NBR2)
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