Canonical Allele Identifier: CA002869

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37595
• ClinVar RCV Id: RCV000031176 ; RCV000580694
• dbSNP Id: rs80357854
• MyVariant Identifiers: chr17:g.41228506_41228507del (hg19) ; chr17:g.43076489_43076490del (hg38)
• PubMed: PMID:9667259

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076490_43076491del , CM000679.2:g.43076490_43076491del	GRCh38
NC_000017.10:g.41228507_41228508del , CM000679.1:g.41228507_41228508del	GRCh37
NC_000017.9:g.38482033_38482034del	NCBI36
NG_005905.2:g.141494_141495del , LRG_292:g.141494_141495del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4479_4480del	ENSP00000417241.2:p.Arg1494ValfsTer5
ENST00000470026.6:c.4482_4483del	ENSP00000419274.2:p.Arg1495ValfsTer5
ENST00000473961.6:c.4356_4357del	ENSP00000420201.2:p.Arg1453ValfsTer5
ENST00000476777.6:c.4476_4477del	ENSP00000417554.2:p.Arg1493ValfsTer5
ENST00000477152.6:c.4404_4405del	ENSP00000419988.2:p.Arg1469ValfsTer5
ENST00000478531.6:c.1170_1171del	ENSP00000420412.2:p.Arg391ValfsTer5
ENST00000489037.2:c.4404_4405del	ENSP00000420781.2:p.Arg1469ValfsTer5
ENST00000493919.6:c.1032_1033del	ENSP00000418819.2:p.Arg345ValfsTer5
ENST00000494123.6:c.4482_4483del	ENSP00000419103.2:p.Arg1495ValfsTer5
ENST00000497488.2:c.3594_3595del	ENSP00000418986.2:p.Arg1199ValfsTer5
ENST00000618469.2:c.4482_4483del	ENSP00000478114.2:p.Arg1495ValfsTer5
ENST00000634433.2:c.4359_4360del	ENSP00000489431.2:p.Arg1454ValfsTer5
ENST00000644379.2:c.4548_4549del	ENSP00000496570.2:p.Arg1517ValfsTer5
ENST00000644555.2:c.1032_1033del	ENSP00000494614.2:p.Arg345ValfsTer5
ENST00000652672.2:c.4341_4342del	ENSP00000498906.2:p.Arg1448ValfsTer5
ENST00000484087.6:c.1044_1045del	ENSP00000419481.2:p.Arg349ValfsTer5
ENST00000700182.1:c.1089_1090del	ENSP00000514849.1:p.Arg364ValfsTer5
ENST00000357654.9:c.4482_4483del MANE Select	ENSP00000350283.3:p.Arg1495ValfsTer5
ENST00000471181.7:c.4545_4546del	ENSP00000418960.2:p.Arg1516ValfsTer5
ENST00000644379.1:c.869_870del
ENST00000352993.7:c.1056_1057del	ENSP00000312236.5:p.Arg353ValfsTer5
ENST00000357654.7:c.4482_4483del	ENSP00000350283.3:p.Arg1495ValfsTer5
ENST00000461221.5:c.*4265_*4266del	ENSP00000418548.1:n.*4265_*4266del
ENST00000468300.5:c.1170_1171del	ENSP00000417148.1:p.Arg391ValfsTer5
ENST00000471181.6:c.4545_4546del	ENSP00000418960.2:p.Arg1516ValfsTer5
ENST00000478531.5:c.1170_1171del	ENSP00000420412.1:p.Arg391ValfsTer5
ENST00000484087.5:c.795_796del	ENSP00000419481.1:p.Arg266ValfsTer5
ENST00000487825.5:c.798_799del	ENSP00000418212.1:p.Glu266=
ENST00000491747.6:c.1170_1171del	ENSP00000420705.2:p.Arg391ValfsTer5
ENST00000493795.5:c.4341_4342del	ENSP00000418775.1:p.Arg1448ValfsTer5
ENST00000493919.5:c.1032_1033del	ENSP00000418819.1:p.Arg345ValfsTer5
ENST00000586385.5:c.5-12539_5-12538del	ENSP00000465818.1:n.5-12539_5-12538del
ENST00000591534.5:c.-43-1969_-43-1968del	ENSP00000467329.1:n.-43-1969_-43-1968del
ENST00000591849.5:c.-98-26300_-98-26299del	ENSP00000465347.1:n.-98-26300_-98-26299de...
ENST00000621897.1:n.373_374del
NM_007294.3:c.4482_4483del , LRG_292t1:c.4482_4483del	NP_009225.1:p.Arg1495ValfsTer5
NM_007297.3:c.4341_4342del	NP_009228.2:p.Arg1448ValfsTer5
NM_007298.3:c.1170_1171del	NP_009229.2:p.Arg391ValfsTer5
NM_007299.3:c.1170_1171del	NP_009230.2:p.Arg391ValfsTer5
NM_007300.3:c.4545_4546del	NP_009231.2:p.Arg1516ValfsTer5
NR_027676.1:n.4618_4619del
NM_007294.4:c.4482_4483del MANE Select	NP_009225.1:p.Arg1495ValfsTer5
NM_007297.4:c.4341_4342del	NP_009228.2:p.Arg1448ValfsTer5
NM_007299.4:c.1170_1171del	NP_009230.2:p.Arg391ValfsTer5
NM_007300.4:c.4545_4546del	NP_009231.2:p.Arg1516ValfsTer5
NR_027676.2:n.4659_4660del