Canonical Allele Identifier: CA003261

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55411
• ClinVar RCV Id: RCV000048807 ; RCV000077601 ; RCV000131392 ; RCV000235540 ; RCV001358018
• dbSNP Id: rs80357997
• ExAC: 17:41215905 AC / A
• gnomAD v2: 17-41215905-AC-A
• gnomAD v4: 17-43063888-AC-A
• MyVariant Identifiers: chr17:g.41215906del (hg19) ; chr17:g.43063889del (hg38)
• PubMed: PMID:7611277 ; PMID:9715372 ; PMID:11139249 ; PMID:11597388 ; PMID:11802209 ; PMID:16683254 ; PMID:17624602 ; PMID:21305653 ; PMID:21765009 ; PMID:23034506 ; PMID:23192404 ; PMID:25948282 ; PMID:26295337 ; PMID:26843898 ; PMID:26976419 ; PMID:27767231 ; PMID:27974384

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063891del , CM000679.2:g.43063891del	GRCh38
NC_000017.10:g.41215908del , CM000679.1:g.41215908del	GRCh37
NC_000017.9:g.38469434del	NCBI36
NG_005905.2:g.154095del , LRG_292:g.154095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5134del	ENSP00000417241.2:p.Val1712Ter
ENST00000470026.6:c.5137del	ENSP00000419274.2:p.Val1713Ter
ENST00000473961.6:c.5011del	ENSP00000420201.2:p.Val1671Ter
ENST00000476777.6:c.5131del	ENSP00000417554.2:p.Val1711Ter
ENST00000477152.6:c.5059del	ENSP00000419988.2:p.Val1687Ter
ENST00000478531.6:c.1825del	ENSP00000420412.2:p.Val609Ter
ENST00000489037.2:c.5059del	ENSP00000420781.2:p.Val1687Ter
ENST00000493919.6:c.1687del	ENSP00000418819.2:p.Val563Ter
ENST00000494123.6:c.5137del	ENSP00000419103.2:p.Val1713Ter
ENST00000497488.2:c.4249del	ENSP00000418986.2:p.Val1417Ter
ENST00000618469.2:c.5137del	ENSP00000478114.2:p.Val1713Ter
ENST00000634433.2:c.5014del	ENSP00000489431.2:p.Val1672Ter
ENST00000644379.2:c.5203del	ENSP00000496570.2:p.Val1735Ter
ENST00000644555.2:c.1687del	ENSP00000494614.2:p.Val563Ter
ENST00000652672.2:c.4996del	ENSP00000498906.2:p.Val1666Ter
ENST00000484087.6:c.1699del	ENSP00000419481.2:p.Val567Ter
ENST00000357654.9:c.5137del MANE Select	ENSP00000350283.3:p.Val1713Ter
ENST00000471181.7:c.5200del	ENSP00000418960.2:p.Val1734Ter
ENST00000644379.1:c.1524del
ENST00000352993.7:c.1711del	ENSP00000312236.5:p.Val571Ter
ENST00000357654.7:c.5137del	ENSP00000350283.3:p.Val1713Ter
ENST00000461221.5:c.*4920del	ENSP00000418548.1:n.*4920del
ENST00000468300.5:c.1825del	ENSP00000417148.1:p.Val609Ter
ENST00000471181.6:c.5200del	ENSP00000418960.2:p.Val1734Ter
ENST00000478531.5:c.1825del	ENSP00000420412.1:p.Val609Ter
ENST00000484087.5:c.1450del	ENSP00000419481.1:p.Val484Ter
ENST00000491747.6:c.1825del	ENSP00000420705.2:p.Val609Ter
ENST00000493795.5:c.4996del	ENSP00000418775.1:p.Val1666Ter
ENST00000493919.5:c.1687del	ENSP00000418819.1:p.Val563Ter
ENST00000586385.5:c.67del	ENSP00000465818.1:p.Val23Ter
ENST00000591534.5:c.610del	ENSP00000467329.1:p.Val204Ter
ENST00000591849.5:c.-98-13699del	ENSP00000465347.1:n.-98-13699del
NM_007294.3:c.5137del , LRG_292t1:c.5137del	NP_009225.1:p.Val1713Ter
NM_007297.3:c.4996del	NP_009228.2:p.Val1666Ter
NM_007298.3:c.1825del	NP_009229.2:p.Val609Ter
NM_007299.3:c.1825del	NP_009230.2:p.Val609Ter
NM_007300.3:c.5200del	NP_009231.2:p.Val1734Ter
NR_027676.1:n.5273del
NM_007294.4:c.5137del MANE Select	NP_009225.1:p.Val1713Ter
NM_007297.4:c.4996del	NP_009228.2:p.Val1666Ter
NM_007299.4:c.1825del	NP_009230.2:p.Val609Ter
NM_007300.4:c.5200del	NP_009231.2:p.Val1734Ter
NR_027676.2:n.5314del