Canonical Allele Identifier: CA2260800034
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43124016_43124027delinsCCAGATGGGACA , CM000679.2:g.43124016_43124027delinsCCAGATGGGACA GRCh38
NC_000017.10:g.41276033_41276044delinsCCAGATGGGACA , CM000679.1:g.41276033_41276044delinsCCAGATGGGACA GRCh37
NC_000017.9:g.38529559_38529570delinsCCAGATGGGACA NCBI36
NG_005905.2:g.93957_93968delinsTGTCCCATCTGG , LRG_292:g.93957_93968delinsTGTCCCATCTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.134_144+1delinsTGTCCCATCTGG
ENST00000461574.2:c.70_80+1delinsTGTCCCATCTGG
ENST00000470026.6:c.70_80+1delinsTGTCCCATCTGG
ENST00000473961.6:c.70_80+1delinsTGTCCCATCTGG
ENST00000476777.6:c.70_80+1delinsTGTCCCATCTGG
ENST00000477152.6:c.70_80+1delinsTGTCCCATCTGG
ENST00000478531.6:c.70_80+1delinsTGTCCCATCTGG
ENST00000489037.2:c.70_80+1delinsTGTCCCATCTGG
ENST00000493919.6:c.-18_-8+1delinsTGTCCCATCTGG
ENST00000494123.6:c.70_80+1delinsTGTCCCATCTGG
ENST00000497488.2:c.-219+1244_-219+1255delinsTGTCCCATCTGG ENSP00000418986.2:n.-219+1244_-219+1255delinsTGTCCCATCTGG
ENST00000618469.2:c.70_80+1delinsTGTCCCATCTGG
ENST00000634433.2:c.70_80+1delinsTGTCCCATCTGG
ENST00000644379.2:c.70_80+1delinsTGTCCCATCTGG
ENST00000644555.2:c.-217_-207+1delinsTGTCCCATCTGG
ENST00000652672.2:c.-191_-181+1delinsTGTCCCATCTGG
ENST00000484087.6:c.70_80+1delinsTGTCCCATCTGG
ENST00000700182.1:c.70_80+1delinsTGTCCCATCTGG
ENST00000700183.1:c.70_80+1delinsTGTCCCATCTGG
ENST00000700184.1:n.313_323+1delinsTGTCCCATCTGG
ENST00000700185.1:n.189_199+1delinsTGTCCCATCTGG
ENST00000700186.1:n.189_199+1delinsTGTCCCATCTGG
ENST00000357654.9:c.70_80+1delinsTGTCCCATCTGG
ENST00000471181.7:c.70_80+1delinsTGTCCCATCTGG
ENST00000642945.1:c.70_80+1delinsTGTCCCATCTGG
ENST00000644555.1:c.-217_-207+1delinsTGTCCCATCTGG
ENST00000652672.1:c.-191_-181+1delinsTGTCCCATCTGG
ENST00000352993.7:c.70_80+1delinsTGTCCCATCTGG
ENST00000354071.7:c.70_80+1delinsTGTCCCATCTGG
ENST00000357654.7:c.70_80+1delinsTGTCCCATCTGG
ENST00000461221.5:c.70_80+1delinsTGTCCCATCTGG
ENST00000461798.5:c.70_80+1delinsTGTCCCATCTGG
ENST00000468300.5:c.70_80+1delinsTGTCCCATCTGG
ENST00000470026.5:c.70_80+1delinsTGTCCCATCTGG
ENST00000471181.6:c.70_80+1delinsTGTCCCATCTGG
ENST00000476777.5:c.70_80+1delinsTGTCCCATCTGG
ENST00000477152.5:c.70_80+1delinsTGTCCCATCTGG
ENST00000478531.5:c.70_80+1delinsTGTCCCATCTGG
ENST00000489037.1:c.70_80+1delinsTGTCCCATCTGG
ENST00000491747.6:c.70_80+1delinsTGTCCCATCTGG
ENST00000492859.5:c.70_80+1delinsTGTCCCATCTGG
ENST00000493795.5:c.-18_-8+1delinsTGTCCCATCTGG
ENST00000493919.5:c.-18_-8+1delinsTGTCCCATCTGG
ENST00000494123.5:c.70_80+1delinsTGTCCCATCTGG
ENST00000497488.1:c.-219+1244_-219+1255delinsTGTCCCATCTGG ENSP00000418986.1:n.-219+1244_-219+1255delinsTGTCCCATCTGG
ENST00000586385.5:c.4+1155_4+1166delinsTGTCCCATCTGG ENSP00000465818.1:n.4+1155_4+1166delinsTGTCCCATCTGG
ENST00000591534.5:c.-44+1244_-44+1255delinsTGTCCCATCTGG ENSP00000467329.1:n.-44+1244_-44+1255delinsTGTCCCATCTGG
ENST00000591849.5:c.-99+1244_-99+1255delinsTGTCCCATCTGG ENSP00000465347.1:n.-99+1244_-99+1255delinsTGTCCCATCTGG
ENST00000634433.1:c.70_80+1delinsTGTCCCATCTGG
NM_007294.3:c.70_80+1delinsTGTCCCATCTGG , LRG_292t1:c.70_80+1delinsTGTCCCATCTGG
NM_007297.3:c.-18_-8+1delinsTGTCCCATCTGG
NM_007298.3:c.70_80+1delinsTGTCCCATCTGG
NM_007299.3:c.70_80+1delinsTGTCCCATCTGG
NM_007300.3:c.70_80+1delinsTGTCCCATCTGG
NR_027676.1:n.231_241+1delinsTGTCCCATCTGG
NM_007294.4:c.70_80+1delinsTGTCCCATCTGG
NM_007297.4:c.-18_-8+1delinsTGTCCCATCTGG
NM_007299.4:c.70_80+1delinsTGTCCCATCTGG
NM_007300.4:c.70_80+1delinsTGTCCCATCTGG
NR_027676.2:n.272_282+1delinsTGTCCCATCTGG