Canonical Allele Identifier: CA003707

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55623
• ClinVar RCV Id: RCV000257302
• dbSNP Id: rs397509296
• MyVariant Identifiers: chr17:g.41197739del (hg19) ; chr17:g.43045722del (hg38)
• PubMed: PMID:20858050

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045722del , CM000679.2:g.43045722del	GRCh38
NC_000017.10:g.41197739del , CM000679.1:g.41197739del	GRCh37
NC_000017.9:g.38451265del	NCBI36
NG_005905.2:g.172262del , LRG_292:g.172262del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5545del	ENSP00000417241.2:p.Leu1849TrpfsTer5
ENST00000470026.6:c.5548del	ENSP00000419274.2:p.Leu1850TrpfsTer5
ENST00000473961.6:c.5422del	ENSP00000420201.2:p.Leu1808TrpfsTer5
ENST00000476777.6:c.5542del	ENSP00000417554.2:p.Leu1848TrpfsTer5
ENST00000477152.6:c.5470del	ENSP00000419988.2:p.Leu1824TrpfsTer5
ENST00000478531.6:c.2236del	ENSP00000420412.2:p.Leu746TrpfsTer5
ENST00000489037.2:c.5470del	ENSP00000420781.2:p.Leu1824TrpfsTer5
ENST00000493919.6:c.2098del	ENSP00000418819.2:p.Leu700TrpfsTer5
ENST00000494123.6:c.5548del	ENSP00000419103.2:p.Leu1850TrpfsTer5
ENST00000497488.2:c.4660del	ENSP00000418986.2:p.Leu1554TrpfsTer5
ENST00000618469.2:c.5548del	ENSP00000478114.2:p.Leu1850TrpfsTer5
ENST00000634433.2:c.5425del	ENSP00000489431.2:p.Leu1809TrpfsTer5
ENST00000644379.2:c.5614del	ENSP00000496570.2:p.Leu1872TrpfsTer5
ENST00000644555.2:c.2098del	ENSP00000494614.2:p.Leu700TrpfsTer5
ENST00000652672.2:c.5407del	ENSP00000498906.2:p.Leu1803TrpfsTer5
ENST00000484087.6:c.2110del	ENSP00000419481.2:p.Leu704TrpfsTer5
ENST00000700081.1:n.1431del
ENST00000700082.1:n.912del
ENST00000357654.9:c.5548del MANE Select	ENSP00000350283.3:p.Leu1850TrpfsTer5
ENST00000471181.7:c.5611del	ENSP00000418960.2:p.Leu1871TrpfsTer5
ENST00000644379.1:c.1935del
ENST00000352993.7:c.2122del	ENSP00000312236.5:p.Leu708TrpfsTer5
ENST00000357654.7:c.5548del	ENSP00000350283.3:p.Leu1850TrpfsTer5
ENST00000461221.5:c.*5331del	ENSP00000418548.1:n.*5331del
ENST00000468300.5:c.*62del	ENSP00000417148.1:n.*62del
ENST00000471181.6:c.5611del	ENSP00000418960.2:p.Leu1871TrpfsTer5
ENST00000491747.6:c.2236del	ENSP00000420705.2:p.Leu746TrpfsTer5
ENST00000493795.5:c.5407del	ENSP00000418775.1:p.Leu1803TrpfsTer5
ENST00000586385.5:c.478del	ENSP00000465818.1:p.Leu160TrpfsTer5
ENST00000591534.5:c.1021del	ENSP00000467329.1:p.Leu341TrpfsTer5
ENST00000591849.5:c.247del	ENSP00000465347.1:p.Leu83TrpfsTer5
NM_007294.3:c.5548del , LRG_292t1:c.5548del	NP_009225.1:p.Leu1850TrpfsTer5
NM_007297.3:c.5407del	NP_009228.2:p.Leu1803TrpfsTer5
NM_007298.3:c.2236del	NP_009229.2:p.Leu746TrpfsTer5
NM_007299.3:c.*62del	NP_009230.2:n.*62del
NM_007300.3:c.5611del	NP_009231.2:p.Leu1871TrpfsTer5
NR_027676.1:n.5684del
NM_007294.4:c.5548del MANE Select	NP_009225.1:p.Leu1850TrpfsTer5
NM_007297.4:c.5407del	NP_009228.2:p.Leu1803TrpfsTer5
NM_007299.4:c.*62del	NP_009230.2:n.*62del
NM_007300.4:c.5611del	NP_009231.2:p.Leu1871TrpfsTer5
NR_027676.2:n.5725del