Canonical Allele Identifier: CA002634

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125680
• ClinVar RCV Id: RCV000112262 ; RCV000551100 ; RCV000585711 ; RCV000776209
• dbSNP Id: rs80357861
• gnomAD v4: 17-43091015-AC-A
• MyVariant Identifiers: chr17:g.41243033del (hg19) ; chr17:g.43091016del (hg38)
• PubMed: PMID:10464631 ; PMID:16267036 ; PMID:20206335 ; PMID:26014432

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091018del , CM000679.2:g.43091018del	GRCh38
NC_000017.10:g.41243035del , CM000679.1:g.41243035del	GRCh37
NC_000017.9:g.38496561del	NCBI36
NG_005905.2:g.126968del , LRG_292:g.126968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4113del	ENSP00000417241.2:p.Cys1372ValfsTer21
ENST00000470026.6:c.4113del	ENSP00000419274.2:p.Cys1372ValfsTer21
ENST00000473961.6:c.3987del	ENSP00000420201.2:p.Cys1330ValfsTer21
ENST00000476777.6:c.4110del	ENSP00000417554.2:p.Cys1371ValfsTer21
ENST00000477152.6:c.4035del	ENSP00000419988.2:p.Cys1346ValfsTer21
ENST00000478531.6:c.801del	ENSP00000420412.2:p.Cys268ValfsTer21
ENST00000489037.2:c.4035del	ENSP00000420781.2:p.Cys1346ValfsTer21
ENST00000493919.6:c.663del	ENSP00000418819.2:p.Cys222ValfsTer21
ENST00000494123.6:c.4113del	ENSP00000419103.2:p.Cys1372ValfsTer21
ENST00000497488.2:c.3225del	ENSP00000418986.2:p.Cys1076ValfsTer21
ENST00000618469.2:c.4113del	ENSP00000478114.2:p.Cys1372ValfsTer21
ENST00000634433.2:c.3990del	ENSP00000489431.2:p.Cys1331ValfsTer21
ENST00000644379.2:c.4113del	ENSP00000496570.2:p.Cys1372ValfsTer21
ENST00000644555.2:c.663del	ENSP00000494614.2:p.Cys222ValfsTer21
ENST00000652672.2:c.3972del	ENSP00000498906.2:p.Cys1325ValfsTer21
ENST00000484087.6:c.681del	ENSP00000419481.2:p.Cys228ValfsTer21
ENST00000700182.1:c.723del	ENSP00000514849.1:p.Cys242ValfsTer21
ENST00000357654.9:c.4113del MANE Select	ENSP00000350283.3:p.Cys1372ValfsTer21
ENST00000471181.7:c.4113del	ENSP00000418960.2:p.Cys1372ValfsTer21
ENST00000644379.1:c.434del
ENST00000352993.7:c.687del	ENSP00000312236.5:p.Cys230ValfsTer21
ENST00000357654.7:c.4113del	ENSP00000350283.3:p.Cys1372ValfsTer21
ENST00000461221.5:c.*3896del	ENSP00000418548.1:n.*3896del
ENST00000461574.1:c.407del
ENST00000468300.5:c.804del	ENSP00000417148.1:p.Cys269ValfsTer21
ENST00000471181.6:c.4113del	ENSP00000418960.2:p.Cys1372ValfsTer21
ENST00000478531.5:c.801del	ENSP00000420412.1:p.Cys268ValfsTer21
ENST00000484087.5:c.426del	ENSP00000419481.1:p.Cys143ValfsTer21
ENST00000487825.5:c.429del	ENSP00000418212.1:p.Cys144ValfsTer21
ENST00000491747.6:c.804del	ENSP00000420705.2:p.Cys269ValfsTer21
ENST00000493795.5:c.3972del	ENSP00000418775.1:p.Cys1325ValfsTer21
ENST00000493919.5:c.663del	ENSP00000418819.1:p.Cys222ValfsTer21
ENST00000586385.5:c.5-27065del	ENSP00000465818.1:n.5-27065del
ENST00000591534.5:c.-43-16495del	ENSP00000467329.1:n.-43-16495del
ENST00000591849.5:c.-99+34255del	ENSP00000465347.1:n.-99+34255del
NM_007294.3:c.4113del , LRG_292t1:c.4113del	NP_009225.1:p.Cys1372ValfsTer21
NM_007297.3:c.3972del	NP_009228.2:p.Cys1325ValfsTer21
NM_007298.3:c.804del	NP_009229.2:p.Cys269ValfsTer21
NM_007299.3:c.804del	NP_009230.2:p.Cys269ValfsTer21
NM_007300.3:c.4113del	NP_009231.2:p.Cys1372ValfsTer21
NR_027676.1:n.4249del
NM_007294.4:c.4113del MANE Select	NP_009225.1:p.Cys1372ValfsTer21
NM_007297.4:c.3972del	NP_009228.2:p.Cys1325ValfsTer21
NM_007299.4:c.804del	NP_009230.2:p.Cys269ValfsTer21
NM_007300.4:c.4113del	NP_009231.2:p.Cys1372ValfsTer21
NR_027676.2:n.4290del