Canonical Allele Identifier: CA2260763684
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43051062_43051116delinsCCTGTGGGCATGTTGGTGAAGGGCCCATAGCAACAGATTTCTAGCCCCCTGAAGA , CM000679.2:g.43051062_43051116delinsCCTGTGGGCATGTTGGTGAAGGGCCCATAGCAACAGATTTCTAGCCCCCTGAAGA GRCh38
NC_000017.10:g.41203079_41203133delinsCCTGTGGGCATGTTGGTGAAGGGCCCATAGCAACAGATTTCTAGCCCCCTGAAGA , CM000679.1:g.41203079_41203133delinsCCTGTGGGCATGTTGGTGAAGGGCCCATAGCAACAGATTTCTAGCCCCCTGAAGA GRCh37
NC_000017.9:g.38456605_38456659delinsCCTGTGGGCATGTTGGTGAAGGGCCCATAGCAACAGATTTCTAGCCCCCTGAAGA NCBI36
NG_005905.2:g.166868_166922delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG , LRG_292:g.166868_166922delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5276_5329+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000470026.6:c.5279_5332+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000473961.6:c.5153_5206+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000476777.6:c.5273_5326+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000477152.6:c.5201_5254+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000478531.6:c.1967_2020+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000489037.2:c.5201_5254+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000493919.6:c.1829_1882+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000494123.6:c.5279_5332+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000497488.2:c.4391_4444+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000618469.2:c.5279_5332+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000634433.2:c.5156_5209+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000644379.2:c.5345_5398+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000644555.2:c.1829_1882+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000652672.2:c.5138_5191+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000484087.6:c.1841_1894+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000357654.9:c.5279_5332+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000471181.7:c.5342_5395+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000644379.1:c.1666_1719+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000352993.7:c.1853_1906+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000357654.7:c.5279_5332+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000461221.5:c.*5062_*5115+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000468300.5:c.1967_2020+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000471181.6:c.5342_5395+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000491747.6:c.1967_2020+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000493795.5:c.5138_5191+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000586385.5:c.209_262+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000591534.5:c.752_805+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
ENST00000591849.5:c.-98-926_-98-872delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG ENSP00000465347.1:n.-98-926_-98-872delinsTCTTCAGGGGGCTAGAAATC...
NM_007294.3:c.5279_5332+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG , LRG_292t1:c.5279_5332+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
NM_007297.3:c.5138_5191+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
NM_007298.3:c.1967_2020+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
NM_007299.3:c.1967_2020+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
NM_007300.3:c.5342_5395+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
NR_027676.1:n.5415_5468+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
NM_007294.4:c.5279_5332+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
NM_007297.4:c.5138_5191+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
NM_007299.4:c.1967_2020+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
NM_007300.4:c.5342_5395+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
NR_027676.2:n.5456_5509+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG