Canonical Allele Identifier: CA001766

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54646
• ClinVar RCV Id: RCV001353865
• dbSNP Id: rs80357636
• gnomAD v2: 17-41244861-CTT-C
• gnomAD v3: 17-43092844-CTT-C
• gnomAD v4: 17-43092844-CTT-C
• MyVariant Identifiers: chr17:g.41244862_41244863del (hg19) ; chr17:g.43092845_43092846del (hg38)
• PubMed: PMID:8807330 ; PMID:9150151 ; PMID:9361038 ; PMID:9429140 ; PMID:11597388 ; PMID:12354934 ; PMID:14574155 ; PMID:15010701 ; PMID:15642173 ; PMID:16615107 ; PMID:17591843 ; PMID:18704682 ; PMID:19949876 ; PMID:21305653 ; PMID:23199084 ; PMID:24285858 ; PMID:27533489 ; PMID:27767231

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092846_43092847del , CM000679.2:g.43092846_43092847del	GRCh38
NC_000017.10:g.41244863_41244864del , CM000679.1:g.41244863_41244864del	GRCh37
NC_000017.9:g.38498389_38498390del	NCBI36
NG_005905.2:g.125138_125139del , LRG_292:g.125138_125139del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2749_2750del
ENST00000461574.2:c.2685_2686del	ENSP00000417241.2:p.Pro897LysfsTer5
ENST00000470026.6:c.2685_2686del	ENSP00000419274.2:p.Pro897LysfsTer5
ENST00000473961.6:c.2559_2560del	ENSP00000420201.2:p.Pro855LysfsTer5
ENST00000476777.6:c.2682_2683del	ENSP00000417554.2:p.Pro896LysfsTer5
ENST00000477152.6:c.2607_2608del	ENSP00000419988.2:p.Pro871LysfsTer5
ENST00000478531.6:c.785-1814_785-1813del	ENSP00000420412.2:n.785-1814_785-1813del
ENST00000489037.2:c.2607_2608del	ENSP00000420781.2:p.Pro871LysfsTer5
ENST00000493919.6:c.647-1814_647-1813del	ENSP00000418819.2:n.647-1814_647-1813del
ENST00000494123.6:c.2685_2686del	ENSP00000419103.2:p.Pro897LysfsTer5
ENST00000497488.2:c.1797_1798del	ENSP00000418986.2:p.Pro601LysfsTer5
ENST00000618469.2:c.2685_2686del	ENSP00000478114.2:p.Pro897LysfsTer5
ENST00000634433.2:c.2562_2563del	ENSP00000489431.2:p.Pro856LysfsTer5
ENST00000644379.2:c.2685_2686del	ENSP00000496570.2:p.Pro897LysfsTer5
ENST00000644555.2:c.647-1814_647-1813del	ENSP00000494614.2:n.647-1814_647-1813del
ENST00000652672.2:c.2544_2545del	ENSP00000498906.2:p.Pro850LysfsTer5
ENST00000484087.6:c.665-1814_665-1813del	ENSP00000419481.2:n.665-1814_665-1813del
ENST00000700182.1:c.707-1814_707-1813del	ENSP00000514849.1:n.707-1814_707-1813del
ENST00000357654.9:c.2685_2686del MANE Select	ENSP00000350283.3:p.Pro897LysfsTer5
ENST00000471181.7:c.2685_2686del	ENSP00000418960.2:p.Pro897LysfsTer5
ENST00000352993.7:c.671-1814_671-1813del	ENSP00000312236.5:n.671-1814_671-1813del
ENST00000354071.7:c.2685_2686del	ENSP00000326002.7:p.Pro897LysfsTer5
ENST00000357654.7:c.2685_2686del	ENSP00000350283.3:p.Pro897LysfsTer5
ENST00000461221.5:c.*2468_*2469del	ENSP00000418548.1:n.*2468_*2469del
ENST00000468300.5:c.788-1814_788-1813del	ENSP00000417148.1:n.788-1814_788-1813del
ENST00000471181.6:c.2685_2686del	ENSP00000418960.2:p.Pro897LysfsTer5
ENST00000478531.5:c.785-1814_785-1813del	ENSP00000420412.1:n.785-1814_785-1813del
ENST00000484087.5:c.410-1814_410-1813del	ENSP00000419481.1:n.410-1814_410-1813del
ENST00000487825.5:c.413-1814_413-1813del	ENSP00000418212.1:n.413-1814_413-1813del
ENST00000491747.6:c.788-1814_788-1813del	ENSP00000420705.2:n.788-1814_788-1813del
ENST00000493795.5:c.2544_2545del	ENSP00000418775.1:p.Pro850LysfsTer5
ENST00000493919.5:c.647-1814_647-1813del	ENSP00000418819.1:n.647-1814_647-1813del
ENST00000586385.5:c.5-28895_5-28894del	ENSP00000465818.1:n.5-28895_5-28894del
ENST00000591534.5:c.-43-18325_-43-18324del	ENSP00000467329.1:n.-43-18325_-43-18324del
ENST00000591849.5:c.-99+32425_-99+32426del	ENSP00000465347.1:n.-99+32425_-99+32426del
NM_007294.3:c.2685_2686del , LRG_292t1:c.2685_2686del	NP_009225.1:p.Pro897LysfsTer5
NM_007297.3:c.2544_2545del	NP_009228.2:p.Pro850LysfsTer5
NM_007298.3:c.788-1814_788-1813del	NP_009229.2:n.788-1814_788-1813del
NM_007299.3:c.788-1814_788-1813del	NP_009230.2:n.788-1814_788-1813del
NM_007300.3:c.2685_2686del	NP_009231.2:p.Pro897LysfsTer5
NR_027676.1:n.2821_2822del
NM_007294.4:c.2685_2686del MANE Select	NP_009225.1:p.Pro897LysfsTer5
NM_007297.4:c.2544_2545del	NP_009228.2:p.Pro850LysfsTer5
NM_007299.4:c.788-1814_788-1813del	NP_009230.2:n.788-1814_788-1813del
NM_007300.4:c.2685_2686del	NP_009231.2:p.Pro897LysfsTer5
NR_027676.2:n.2862_2863del