Canonical Allele Identifier: CA002767

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55168
• ClinVar RCV Id: RCV000112315 ; RCV000496584 ; RCV001022292 ; RCV001284548
• dbSNP Id: rs80357748
• MyVariant Identifiers: chr17:g.41234457dupC (hg19) ; chr17:g.41234456_41234457insC (hg19) ; chr17:g.43082440dupC (hg38) ; chr17:g.43082439_43082440insC (hg38)
• PubMed: PMID:16284991

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082441dup , CM000679.2:g.43082441dup	GRCh38
NC_000017.10:g.41234458dup , CM000679.1:g.41234458dup	GRCh37
NC_000017.9:g.38487984dup	NCBI36
NG_005905.2:g.135544dup , LRG_292:g.135544dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4321dup	ENSP00000417241.2:p.Asp1441GlyfsTer20
ENST00000470026.6:c.4321dup	ENSP00000419274.2:p.Asp1441GlyfsTer21
ENST00000473961.6:c.4195dup	ENSP00000420201.2:p.Asp1399GlyfsTer21
ENST00000476777.6:c.4315dup	ENSP00000417554.2:p.Asp1439GlyfsTer21
ENST00000477152.6:c.4243dup	ENSP00000419988.2:p.Asp1415GlyfsTer21
ENST00000478531.6:c.1009dup	ENSP00000420412.2:p.Asp337GlyfsTer21
ENST00000489037.2:c.4243dup	ENSP00000420781.2:p.Asp1415GlyfsTer21
ENST00000493919.6:c.871dup	ENSP00000418819.2:p.Asp291GlyfsTer21
ENST00000494123.6:c.4321dup	ENSP00000419103.2:p.Asp1441GlyfsTer21
ENST00000497488.2:c.3433dup	ENSP00000418986.2:p.Asp1145GlyfsTer21
ENST00000618469.2:c.4321dup	ENSP00000478114.2:p.Asp1441GlyfsTer21
ENST00000634433.2:c.4198dup	ENSP00000489431.2:p.Asp1400GlyfsTer21
ENST00000644379.2:c.4321dup	ENSP00000496570.2:p.Asp1441GlyfsTer27
ENST00000644555.2:c.871dup	ENSP00000494614.2:p.Asp291GlyfsTer21
ENST00000652672.2:c.4180dup	ENSP00000498906.2:p.Asp1394GlyfsTer21
ENST00000484087.6:c.886dup	ENSP00000419481.2:p.Asp296GlyfsTer20
ENST00000700182.1:c.931dup	ENSP00000514849.1:p.Asp311GlyfsTer20
ENST00000357654.9:c.4321dup MANE Select	ENSP00000350283.3:p.Asp1441GlyfsTer21
ENST00000471181.7:c.4321dup	ENSP00000418960.2:p.Asp1441GlyfsTer27
ENST00000644379.1:c.642dup
ENST00000352993.7:c.895dup	ENSP00000312236.5:p.Asp299GlyfsTer21
ENST00000357654.7:c.4321dup	ENSP00000350283.3:p.Asp1441GlyfsTer21
ENST00000461221.5:c.*4104dup	ENSP00000418548.1:n.*4104dup
ENST00000461574.1:c.615dup
ENST00000468300.5:c.1012dup	ENSP00000417148.1:p.Asp338GlyfsTer20
ENST00000471181.6:c.4321dup	ENSP00000418960.2:p.Asp1441GlyfsTer27
ENST00000478531.5:c.1009dup	ENSP00000420412.1:p.Asp337GlyfsTer21
ENST00000484087.5:c.634dup	ENSP00000419481.1:p.Asp212GlyfsTer21
ENST00000487825.5:c.637dup	ENSP00000418212.1:p.Asp213GlyfsTer21
ENST00000491747.6:c.1012dup	ENSP00000420705.2:p.Asp338GlyfsTer20
ENST00000493795.5:c.4180dup	ENSP00000418775.1:p.Asp1394GlyfsTer21
ENST00000493919.5:c.871dup	ENSP00000418819.1:p.Asp291GlyfsTer21
ENST00000586385.5:c.5-18489dup	ENSP00000465818.1:n.5-18489dup
ENST00000591534.5:c.-43-7919dup	ENSP00000467329.1:n.-43-7919dup
ENST00000591849.5:c.-98-32250dup	ENSP00000465347.1:n.-98-32250dup
ENST00000621897.1:n.215dup
NM_007294.3:c.4321dup , LRG_292t1:c.4321dup	NP_009225.1:p.Asp1441GlyfsTer21
NM_007297.3:c.4180dup	NP_009228.2:p.Asp1394GlyfsTer21
NM_007298.3:c.1012dup	NP_009229.2:p.Asp338GlyfsTer20
NM_007299.3:c.1012dup	NP_009230.2:p.Asp338GlyfsTer20
NM_007300.3:c.4321dup	NP_009231.2:p.Asp1441GlyfsTer27
NR_027676.1:n.4457dup
NM_007294.4:c.4321dup MANE Select	NP_009225.1:p.Asp1441GlyfsTer21
NM_007297.4:c.4180dup	NP_009228.2:p.Asp1394GlyfsTer21
NM_007299.4:c.1012dup	NP_009230.2:p.Asp338GlyfsTer20
NM_007300.4:c.4321dup	NP_009231.2:p.Asp1441GlyfsTer27
NR_027676.2:n.4498dup