Canonical Allele Identifier: CA002434

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55002
• ClinVar RCV Id: RCV000112182 ; RCV000574583
• dbSNP Id: rs80357798
• gnomAD v4: 17-43091751-TA-T
• MyVariant Identifiers: chr17:g.41243769del (hg19) ; chr17:g.43091752del (hg38)
• PubMed: PMID:7837387 ; PMID:9115959 ; PMID:17453335 ; PMID:22864640 ; PMID:23536787 ; PMID:24010542 ; PMID:25948282 ; PMID:26843898

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091754del , CM000679.2:g.43091754del	GRCh38
NC_000017.10:g.41243771del , CM000679.1:g.41243771del	GRCh37
NC_000017.9:g.38497297del	NCBI36
NG_005905.2:g.126232del , LRG_292:g.126232del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3843del
ENST00000461574.2:c.3779del	ENSP00000417241.2:p.Leu1260TyrfsTer4
ENST00000470026.6:c.3779del	ENSP00000419274.2:p.Leu1260TyrfsTer4
ENST00000473961.6:c.3653del	ENSP00000420201.2:p.Leu1218TyrfsTer4
ENST00000476777.6:c.3776del	ENSP00000417554.2:p.Leu1259TyrfsTer4
ENST00000477152.6:c.3701del	ENSP00000419988.2:p.Leu1234TyrfsTer4
ENST00000478531.6:c.785-720del	ENSP00000420412.2:n.785-720del
ENST00000489037.2:c.3701del	ENSP00000420781.2:p.Leu1234TyrfsTer4
ENST00000493919.6:c.647-720del	ENSP00000418819.2:n.647-720del
ENST00000494123.6:c.3779del	ENSP00000419103.2:p.Leu1260TyrfsTer4
ENST00000497488.2:c.2891del	ENSP00000418986.2:p.Leu964TyrfsTer4
ENST00000618469.2:c.3779del	ENSP00000478114.2:p.Leu1260TyrfsTer4
ENST00000634433.2:c.3656del	ENSP00000489431.2:p.Leu1219TyrfsTer4
ENST00000644379.2:c.3779del	ENSP00000496570.2:p.Leu1260TyrfsTer4
ENST00000644555.2:c.647-720del	ENSP00000494614.2:n.647-720del
ENST00000652672.2:c.3638del	ENSP00000498906.2:p.Leu1213TyrfsTer4
ENST00000484087.6:c.665-720del	ENSP00000419481.2:n.665-720del
ENST00000700182.1:c.707-720del	ENSP00000514849.1:n.707-720del
ENST00000357654.9:c.3779del MANE Select	ENSP00000350283.3:p.Leu1260TyrfsTer4
ENST00000471181.7:c.3779del	ENSP00000418960.2:p.Leu1260TyrfsTer4
ENST00000644379.1:c.100del
ENST00000352993.7:c.671-720del	ENSP00000312236.5:n.671-720del
ENST00000354071.7:c.3779del	ENSP00000326002.7:p.Leu1260TyrfsTer4
ENST00000357654.7:c.3779del	ENSP00000350283.3:p.Leu1260TyrfsTer4
ENST00000461221.5:c.*3562del	ENSP00000418548.1:n.*3562del
ENST00000461574.1:c.73del
ENST00000468300.5:c.788-720del	ENSP00000417148.1:n.788-720del
ENST00000471181.6:c.3779del	ENSP00000418960.2:p.Leu1260TyrfsTer4
ENST00000478531.5:c.785-720del	ENSP00000420412.1:n.785-720del
ENST00000484087.5:c.410-720del	ENSP00000419481.1:n.410-720del
ENST00000487825.5:c.413-720del	ENSP00000418212.1:n.413-720del
ENST00000491747.6:c.788-720del	ENSP00000420705.2:n.788-720del
ENST00000493795.5:c.3638del	ENSP00000418775.1:p.Leu1213TyrfsTer4
ENST00000493919.5:c.647-720del	ENSP00000418819.1:n.647-720del
ENST00000586385.5:c.5-27801del	ENSP00000465818.1:n.5-27801del
ENST00000591534.5:c.-43-17231del	ENSP00000467329.1:n.-43-17231del
ENST00000591849.5:c.-99+33519del	ENSP00000465347.1:n.-99+33519del
NM_007294.3:c.3779del , LRG_292t1:c.3779del	NP_009225.1:p.Leu1260TyrfsTer4
NM_007297.3:c.3638del	NP_009228.2:p.Leu1213TyrfsTer4
NM_007298.3:c.788-720del	NP_009229.2:n.788-720del
NM_007299.3:c.788-720del	NP_009230.2:n.788-720del
NM_007300.3:c.3779del	NP_009231.2:p.Leu1260TyrfsTer4
NR_027676.1:n.3915del
NM_007294.4:c.3779del MANE Select	NP_009225.1:p.Leu1260TyrfsTer4
NM_007297.4:c.3638del	NP_009228.2:p.Leu1213TyrfsTer4
NM_007299.4:c.788-720del	NP_009230.2:n.788-720del
NM_007300.4:c.3779del	NP_009231.2:p.Leu1260TyrfsTer4
NR_027676.2:n.3956del