Canonical Allele Identifier: CA658798858
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 531356
ClinVar RCV Id: RCV000637625
dbSNP Id: rs1555588237

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092345_43092365dup , CM000679.2:g.43092345_43092365dup GRCh38
NC_000017.10:g.41244362_41244382dup , CM000679.1:g.41244362_41244382dup GRCh37
NC_000017.9:g.38497888_38497908dup NCBI36
NG_005905.2:g.125625_125645dup , LRG_292:g.125625_125645dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3236_3256dup
ENST00000461574.2:c.3172_3192dup ENSP00000417241.2:p.Ser1064_Asp1065insIleAsnGluIleGlySerSer
ENST00000470026.6:c.3172_3192dup ENSP00000419274.2:p.Ser1064_Asp1065insIleAsnGluIleGlySerSer
ENST00000473961.6:c.3046_3066dup ENSP00000420201.2:p.Ser1022_Asp1023insIleAsnGluIleGlySerSer
ENST00000476777.6:c.3169_3189dup ENSP00000417554.2:p.Ser1063_Asp1064insIleAsnGluIleGlySerSer
ENST00000477152.6:c.3094_3114dup ENSP00000419988.2:p.Ser1038_Asp1039insIleAsnGluIleGlySerSer
ENST00000478531.6:c.785-1327_785-1307dup ENSP00000420412.2:n.785-1327_785-1307dup
ENST00000489037.2:c.3094_3114dup ENSP00000420781.2:p.Ser1038_Asp1039insIleAsnGluIleGlySerSer
ENST00000493919.6:c.647-1327_647-1307dup ENSP00000418819.2:n.647-1327_647-1307dup
ENST00000494123.6:c.3172_3192dup ENSP00000419103.2:p.Ser1064_Asp1065insIleAsnGluIleGlySerSer
ENST00000497488.2:c.2284_2304dup ENSP00000418986.2:p.Ser768_Asp769insIleAsnGluIleGlySerSer
ENST00000618469.2:c.3172_3192dup ENSP00000478114.2:p.Ser1064_Asp1065insIleAsnGluIleGlySerSer
ENST00000634433.2:c.3049_3069dup ENSP00000489431.2:p.Ser1023_Asp1024insIleAsnGluIleGlySerSer
ENST00000644379.2:c.3172_3192dup ENSP00000496570.2:p.Ser1064_Asp1065insIleAsnGluIleGlySerSer
ENST00000644555.2:c.647-1327_647-1307dup ENSP00000494614.2:n.647-1327_647-1307dup
ENST00000652672.2:c.3031_3051dup ENSP00000498906.2:p.Ser1017_Asp1018insIleAsnGluIleGlySerSer
ENST00000484087.6:c.665-1327_665-1307dup ENSP00000419481.2:n.665-1327_665-1307dup
ENST00000700182.1:c.707-1327_707-1307dup ENSP00000514849.1:n.707-1327_707-1307dup
ENST00000357654.9:c.3172_3192dup MANE Select ENSP00000350283.3:p.Ser1064_Asp1065insIleAsnGluIleGlySerSer
ENST00000471181.7:c.3172_3192dup ENSP00000418960.2:p.Ser1064_Asp1065insIleAsnGluIleGlySerSer
ENST00000352993.7:c.671-1327_671-1307dup ENSP00000312236.5:n.671-1327_671-1307dup
ENST00000354071.7:c.3172_3192dup ENSP00000326002.7:p.Ser1064_Asp1065insIleAsnGluIleGlySerSer
ENST00000357654.7:c.3172_3192dup ENSP00000350283.3:p.Ser1064_Asp1065insIleAsnGluIleGlySerSer
ENST00000461221.5:c.*2955_*2975dup ENSP00000418548.1:n.*2955_*2975dup
ENST00000468300.5:c.788-1327_788-1307dup ENSP00000417148.1:n.788-1327_788-1307dup
ENST00000471181.6:c.3172_3192dup ENSP00000418960.2:p.Ser1064_Asp1065insIleAsnGluIleGlySerSer
ENST00000478531.5:c.785-1327_785-1307dup ENSP00000420412.1:n.785-1327_785-1307dup
ENST00000484087.5:c.410-1327_410-1307dup ENSP00000419481.1:n.410-1327_410-1307dup
ENST00000487825.5:c.413-1327_413-1307dup ENSP00000418212.1:n.413-1327_413-1307dup
ENST00000491747.6:c.788-1327_788-1307dup ENSP00000420705.2:n.788-1327_788-1307dup
ENST00000493795.5:c.3031_3051dup ENSP00000418775.1:p.Ser1017_Asp1018insIleAsnGluIleGlySerSer
ENST00000493919.5:c.647-1327_647-1307dup ENSP00000418819.1:n.647-1327_647-1307dup
ENST00000586385.5:c.5-28408_5-28388dup ENSP00000465818.1:n.5-28408_5-28388dup
ENST00000591534.5:c.-43-17838_-43-17818dup ENSP00000467329.1:n.-43-17838_-43-17818dup
ENST00000591849.5:c.-99+32912_-99+32932dup ENSP00000465347.1:n.-99+32912_-99+32932dup
NM_007294.3:c.3172_3192dup , LRG_292t1:c.3172_3192dup NP_009225.1:p.Ser1064_Asp1065insIleAsnGluIleGlySerSer
NM_007297.3:c.3031_3051dup NP_009228.2:p.Ser1017_Asp1018insIleAsnGluIleGlySerSer
NM_007298.3:c.788-1327_788-1307dup NP_009229.2:n.788-1327_788-1307dup
NM_007299.3:c.788-1327_788-1307dup NP_009230.2:n.788-1327_788-1307dup
NM_007300.3:c.3172_3192dup NP_009231.2:p.Ser1064_Asp1065insIleAsnGluIleGlySerSer
NR_027676.1:n.3308_3328dup
NM_007294.4:c.3172_3192dup MANE Select NP_009225.1:p.Ser1064_Asp1065insIleAsnGluIleGlySerSer
NM_007297.4:c.3031_3051dup NP_009228.2:p.Ser1017_Asp1018insIleAsnGluIleGlySerSer
NM_007299.4:c.788-1327_788-1307dup NP_009230.2:n.788-1327_788-1307dup
NM_007300.4:c.3172_3192dup NP_009231.2:p.Ser1064_Asp1065insIleAsnGluIleGlySerSer
NR_027676.2:n.3349_3369dup