Canonical Allele Identifier: CA003154

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55355
• ClinVar RCV Id: RCV000048738 ; RCV000112464 ; RCV000579949 ; RCV000586937 ; RCV001002102
• dbSNP Id: rs80358343
• MyVariant Identifiers: chr17:g.41219680_41219682del (hg19) ; chr17:g.43067663_43067665del (hg38)
• PubMed: PMID:10923033 ; PMID:11802209 ; PMID:18092194 ; PMID:19499246 ; PMID:19941162 ; PMID:22505045 ; PMID:28186987

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067666_43067668del , CM000679.2:g.43067666_43067668del	GRCh38
NC_000017.10:g.41219683_41219685del , CM000679.1:g.41219683_41219685del	GRCh37
NC_000017.9:g.38473209_38473211del	NCBI36
NG_005905.2:g.150319_150321del , LRG_292:g.150319_150321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5014_5016del	ENSP00000417241.2:p.His1672del
ENST00000470026.6:c.5017_5019del	ENSP00000419274.2:p.His1673del
ENST00000473961.6:c.4891_4893del	ENSP00000420201.2:p.His1631del
ENST00000476777.6:c.5011_5013del	ENSP00000417554.2:p.His1671del
ENST00000477152.6:c.4939_4941del	ENSP00000419988.2:p.His1647del
ENST00000478531.6:c.1705_1707del	ENSP00000420412.2:p.His569del
ENST00000489037.2:c.4939_4941del	ENSP00000420781.2:p.His1647del
ENST00000493919.6:c.1567_1569del	ENSP00000418819.2:p.His523del
ENST00000494123.6:c.5017_5019del	ENSP00000419103.2:p.His1673del
ENST00000497488.2:c.4129_4131del	ENSP00000418986.2:p.His1377del
ENST00000618469.2:c.5017_5019del	ENSP00000478114.2:p.His1673del
ENST00000634433.2:c.4894_4896del	ENSP00000489431.2:p.His1632del
ENST00000644379.2:c.5083_5085del	ENSP00000496570.2:p.His1695del
ENST00000644555.2:c.1567_1569del	ENSP00000494614.2:p.His523del
ENST00000652672.2:c.4876_4878del	ENSP00000498906.2:p.His1626del
ENST00000484087.6:c.1579_1581del	ENSP00000419481.2:p.His527del
ENST00000357654.9:c.5017_5019del MANE Select	ENSP00000350283.3:p.His1673del
ENST00000471181.7:c.5080_5082del	ENSP00000418960.2:p.His1694del
ENST00000644379.1:c.1404_1406del
ENST00000352993.7:c.1591_1593del	ENSP00000312236.5:p.His531del
ENST00000357654.7:c.5017_5019del	ENSP00000350283.3:p.His1673del
ENST00000461221.5:c.*4800_*4802del	ENSP00000418548.1:n.*4800_*4802del
ENST00000468300.5:c.1705_1707del	ENSP00000417148.1:p.His569del
ENST00000471181.6:c.5080_5082del	ENSP00000418960.2:p.His1694del
ENST00000472490.1:n.170_172del
ENST00000478531.5:c.1705_1707del	ENSP00000420412.1:p.His569del
ENST00000484087.5:c.1330_1332del	ENSP00000419481.1:p.His444del
ENST00000491747.6:c.1705_1707del	ENSP00000420705.2:p.His569del
ENST00000493795.5:c.4876_4878del	ENSP00000418775.1:p.His1626del
ENST00000493919.5:c.1567_1569del	ENSP00000418819.1:p.His523del
ENST00000586385.5:c.5-3714_5-3712del	ENSP00000465818.1:n.5-3714_5-3712del
ENST00000591534.5:c.490_492del	ENSP00000467329.1:p.His164del
ENST00000591849.5:c.-98-17475_-98-17473del	ENSP00000465347.1:n.-98-17475_-98-17473del
NM_007294.3:c.5017_5019del , LRG_292t1:c.5017_5019del	NP_009225.1:p.His1673del
NM_007297.3:c.4876_4878del	NP_009228.2:p.His1626del
NM_007298.3:c.1705_1707del	NP_009229.2:p.His569del
NM_007299.3:c.1705_1707del	NP_009230.2:p.His569del
NM_007300.3:c.5080_5082del	NP_009231.2:p.His1694del
NR_027676.1:n.5153_5155del
NM_007294.4:c.5017_5019del MANE Select	NP_009225.1:p.His1673del
NM_007297.4:c.4876_4878del	NP_009228.2:p.His1626del
NM_007299.4:c.1705_1707del	NP_009230.2:p.His569del
NM_007300.4:c.5080_5082del	NP_009231.2:p.His1694del
NR_027676.2:n.5194_5196del