Canonical Allele Identifier: CA2573054430
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1338574
ClinVar RCV Id: RCV001817945
dbSNP Id: rs2152399492

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43045289_43045297delinsCTCTTGAGGCCAAGCCACTCTGTGCTT , CM000679.2:g.43045289_43045297delinsCTCTTGAGGCCAAGCCACTCTGTGCTT GRCh38
NC_000017.10:g.41197306_41197314delinsCTCTTGAGGCCAAGCCACTCTGTGCTT , CM000679.1:g.41197306_41197314delinsCTCTTGAGGCCAAGCCACTCTGTGCTT GRCh37
NC_000017.9:g.38450832_38450840delinsCTCTTGAGGCCAAGCCACTCTGTGCTT NCBI36
NG_005905.2:g.172687_172695delinsAAGCACAGAGTGGCTTGGCCTCAAGAG , LRG_292:g.172687_172695delinsAAGCACAGAGTGGCTTGGCCTCAAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG ENSP00000417241.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
ENST00000470026.6:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG ENSP00000419274.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
ENST00000473961.6:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG ENSP00000420201.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
ENST00000476777.6:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG ENSP00000417554.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
ENST00000477152.6:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG ENSP00000419988.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
ENST00000478531.6:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG ENSP00000420412.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
ENST00000489037.2:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG ENSP00000420781.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
ENST00000493919.6:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG ENSP00000418819.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
ENST00000494123.6:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG ENSP00000419103.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
ENST00000497488.2:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG ENSP00000418986.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
ENST00000618469.2:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG ENSP00000478114.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
ENST00000634433.2:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG ENSP00000489431.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
ENST00000644379.2:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG ENSP00000496570.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
ENST00000644555.2:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG ENSP00000494614.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
ENST00000652672.2:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG ENSP00000498906.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
ENST00000700081.1:n.1856_1864delinsAAGCACAGAGTGGCTTGGCCTCAAGAG
ENST00000700082.1:n.1337_1345delinsAAGCACAGAGTGGCTTGGCCTCAAGAG
ENST00000357654.9:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG MANE Select ENSP00000350283.3:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
ENST00000471181.7:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG ENSP00000418960.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
ENST00000644379.1:c.2360_2368delinsAAGCACAGAGTGGCTTGGCCTCAAGAG
ENST00000352993.7:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG ENSP00000312236.5:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
ENST00000357654.7:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG ENSP00000350283.3:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
ENST00000468300.5:c.*487_*495delinsAAGCACAGAGTGGCTTGGCCTCAAGAG ENSP00000417148.1:n.*487_*495delinsAAGCACAGAGTGGCTTGGCCTCAAGA...
NM_007294.3:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG , LRG_292t1:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG NP_009225.1:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG
NM_007297.3:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG NP_009228.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG
NM_007298.3:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG NP_009229.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG
NM_007299.3:c.*487_*495delinsAAGCACAGAGTGGCTTGGCCTCAAGAG NP_009230.2:n.*487_*495delinsAAGCACAGAGTGGCTTGGCCTCAAGAG
NM_007300.3:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG NP_009231.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG
NR_027676.1:n.6109_6117delinsAAGCACAGAGTGGCTTGGCCTCAAGAG
NM_007294.4:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG MANE Select NP_009225.1:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG
NM_007297.4:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG NP_009228.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG
NM_007299.4:c.*487_*495delinsAAGCACAGAGTGGCTTGGCCTCAAGAG NP_009230.2:n.*487_*495delinsAAGCACAGAGTGGCTTGGCCTCAAGAG
NM_007300.4:c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG NP_009231.2:n.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG
NR_027676.2:n.6150_6158delinsAAGCACAGAGTGGCTTGGCCTCAAGAG