Canonical Allele Identifier: CA198447

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55172
• ClinVar RCV Id: RCV000048527 ; RCV000167492 ; RCV000241019 ; RCV000478176 ; RCV003162414
• dbSNP Id: rs397509164
• MyVariant Identifiers: chr17:g.41234440_41234443dupTTCT (hg19) ; chr17:g.41234439_41234440insTTCT (hg19) ; chr17:g.43082423_43082426dupTTCT (hg38) ; chr17:g.43082422_43082423insTTCT (hg38)
• PubMed: PMID:22798144

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082423_43082426dup , CM000679.2:g.43082423_43082426dup	GRCh38
NC_000017.10:g.41234440_41234443dup , CM000679.1:g.41234440_41234443dup	GRCh37
NC_000017.9:g.38487966_38487969dup	NCBI36
NG_005905.2:g.135558_135561dup , LRG_292:g.135558_135561dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4335_4338dup	ENSP00000417241.2:p.Gln1447ArgfsTer15
ENST00000470026.6:c.4335_4338dup	ENSP00000419274.2:p.Gln1447ArgfsTer16
ENST00000473961.6:c.4209_4212dup	ENSP00000420201.2:p.Gln1405ArgfsTer16
ENST00000476777.6:c.4329_4332dup	ENSP00000417554.2:p.Gln1445ArgfsTer16
ENST00000477152.6:c.4257_4260dup	ENSP00000419988.2:p.Gln1421ArgfsTer16
ENST00000478531.6:c.1023_1026dup	ENSP00000420412.2:p.Gln343ArgfsTer16
ENST00000489037.2:c.4257_4260dup	ENSP00000420781.2:p.Gln1421ArgfsTer16
ENST00000493919.6:c.885_888dup	ENSP00000418819.2:p.Gln297ArgfsTer16
ENST00000494123.6:c.4335_4338dup	ENSP00000419103.2:p.Gln1447ArgfsTer16
ENST00000497488.2:c.3447_3450dup	ENSP00000418986.2:p.Gln1151ArgfsTer16
ENST00000618469.2:c.4335_4338dup	ENSP00000478114.2:p.Gln1447ArgfsTer16
ENST00000634433.2:c.4212_4215dup	ENSP00000489431.2:p.Gln1406ArgfsTer16
ENST00000644379.2:c.4335_4338dup	ENSP00000496570.2:p.Gln1447ArgfsTer22
ENST00000644555.2:c.885_888dup	ENSP00000494614.2:p.Gln297ArgfsTer16
ENST00000652672.2:c.4194_4197dup	ENSP00000498906.2:p.Gln1400ArgfsTer16
ENST00000484087.6:c.900_903dup	ENSP00000419481.2:p.Gln302ArgfsTer15
ENST00000700182.1:c.945_948dup	ENSP00000514849.1:p.Gln317ArgfsTer15
ENST00000357654.9:c.4335_4338dup MANE Select	ENSP00000350283.3:p.Gln1447ArgfsTer16
ENST00000471181.7:c.4335_4338dup	ENSP00000418960.2:p.Gln1447ArgfsTer22
ENST00000644379.1:c.656_659dup
ENST00000352993.7:c.909_912dup	ENSP00000312236.5:p.Gln305ArgfsTer16
ENST00000357654.7:c.4335_4338dup	ENSP00000350283.3:p.Gln1447ArgfsTer16
ENST00000461221.5:c.*4118_*4121dup	ENSP00000418548.1:n.*4118_*4121dup
ENST00000461574.1:c.629_632dup
ENST00000468300.5:c.1026_1029dup	ENSP00000417148.1:p.Gln344ArgfsTer15
ENST00000471181.6:c.4335_4338dup	ENSP00000418960.2:p.Gln1447ArgfsTer22
ENST00000478531.5:c.1023_1026dup	ENSP00000420412.1:p.Gln343ArgfsTer16
ENST00000484087.5:c.648_651dup	ENSP00000419481.1:p.Gln218ArgfsTer16
ENST00000487825.5:c.651_654dup	ENSP00000418212.1:p.Gln219ArgfsTer16
ENST00000491747.6:c.1026_1029dup	ENSP00000420705.2:p.Gln344ArgfsTer15
ENST00000493795.5:c.4194_4197dup	ENSP00000418775.1:p.Gln1400ArgfsTer16
ENST00000493919.5:c.885_888dup	ENSP00000418819.1:p.Gln297ArgfsTer16
ENST00000586385.5:c.5-18475_5-18472dup	ENSP00000465818.1:n.5-18475_5-18472dup
ENST00000591534.5:c.-43-7905_-43-7902dup	ENSP00000467329.1:n.-43-7905_-43-7902dup
ENST00000591849.5:c.-98-32236_-98-32233dup	ENSP00000465347.1:n.-98-32236_-98-32233dup
ENST00000621897.1:n.229_232dup
NM_007294.3:c.4335_4338dup , LRG_292t1:c.4335_4338dup	NP_009225.1:p.Gln1447ArgfsTer16
NM_007297.3:c.4194_4197dup	NP_009228.2:p.Gln1400ArgfsTer16
NM_007298.3:c.1026_1029dup	NP_009229.2:p.Gln344ArgfsTer15
NM_007299.3:c.1026_1029dup	NP_009230.2:p.Gln344ArgfsTer15
NM_007300.3:c.4335_4338dup	NP_009231.2:p.Gln1447ArgfsTer22
NR_027676.1:n.4471_4474dup
NM_007294.4:c.4335_4338dup MANE Select	NP_009225.1:p.Gln1447ArgfsTer16
NM_007297.4:c.4194_4197dup	NP_009228.2:p.Gln1400ArgfsTer16
NM_007299.4:c.1026_1029dup	NP_009230.2:p.Gln344ArgfsTer15
NM_007300.4:c.4335_4338dup	NP_009231.2:p.Gln1447ArgfsTer22
NR_027676.2:n.4512_4515dup