Canonical Allele Identifier: CA003582

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55571
• ClinVar RCV Id: RCV001185951
• dbSNP Id: rs80357934
• MyVariant Identifiers: chr17:g.41199708del (hg19) ; chr17:g.43047691del (hg38)
• PubMed: PMID:10508480

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047692del , CM000679.2:g.43047692del	GRCh38
NC_000017.10:g.41199709del , CM000679.1:g.41199709del	GRCh37
NC_000017.9:g.38453235del	NCBI36
NG_005905.2:g.170293del , LRG_292:g.170293del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5416del	ENSP00000417241.2:p.Ile1806LeufsTer27
ENST00000470026.6:c.5419del	ENSP00000419274.2:p.Ile1807LeufsTer27
ENST00000473961.6:c.5293del	ENSP00000420201.2:p.Ile1765LeufsTer27
ENST00000476777.6:c.5413del	ENSP00000417554.2:p.Ile1805LeufsTer27
ENST00000477152.6:c.5341del	ENSP00000419988.2:p.Ile1781LeufsTer27
ENST00000478531.6:c.2107del	ENSP00000420412.2:p.Ile703LeufsTer27
ENST00000489037.2:c.5341del	ENSP00000420781.2:p.Ile1781LeufsTer27
ENST00000493919.6:c.1969del	ENSP00000418819.2:p.Ile657LeufsTer27
ENST00000494123.6:c.5419del	ENSP00000419103.2:p.Ile1807LeufsTer27
ENST00000497488.2:c.4531del	ENSP00000418986.2:p.Ile1511LeufsTer27
ENST00000618469.2:c.5419del	ENSP00000478114.2:p.Ile1807LeufsTer27
ENST00000634433.2:c.5296del	ENSP00000489431.2:p.Ile1766LeufsTer27
ENST00000644379.2:c.5485del	ENSP00000496570.2:p.Ile1829LeufsTer27
ENST00000644555.2:c.1969del	ENSP00000494614.2:p.Ile657LeufsTer27
ENST00000652672.2:c.5278del	ENSP00000498906.2:p.Ile1760LeufsTer27
ENST00000484087.6:c.1981del	ENSP00000419481.2:p.Ile661LeufsTer27
ENST00000700081.1:n.1302del
ENST00000700082.1:n.783del
ENST00000357654.9:c.5419del MANE Select	ENSP00000350283.3:p.Ile1807LeufsTer27
ENST00000471181.7:c.5482del	ENSP00000418960.2:p.Ile1828LeufsTer27
ENST00000644379.1:c.1806del
ENST00000352993.7:c.1993del	ENSP00000312236.5:p.Ile665LeufsTer27
ENST00000357654.7:c.5419del	ENSP00000350283.3:p.Ile1807LeufsTer27
ENST00000461221.5:c.*5202del	ENSP00000418548.1:n.*5202del
ENST00000468300.5:c.2033del	ENSP00000417148.1:p.Asn678IlefsTer?
ENST00000471181.6:c.5482del	ENSP00000418960.2:p.Ile1828LeufsTer27
ENST00000491747.6:c.2107del	ENSP00000420705.2:p.Ile703LeufsTer27
ENST00000493795.5:c.5278del	ENSP00000418775.1:p.Ile1760LeufsTer27
ENST00000586385.5:c.349del	ENSP00000465818.1:p.Ile117LeufsTer27
ENST00000591534.5:c.892del	ENSP00000467329.1:p.Ile298LeufsTer27
ENST00000591849.5:c.118del	ENSP00000465347.1:p.Ile40LeufsTer27
NM_007294.3:c.5419del , LRG_292t1:c.5419del	NP_009225.1:p.Ile1807LeufsTer27
NM_007297.3:c.5278del	NP_009228.2:p.Ile1760LeufsTer27
NM_007298.3:c.2107del	NP_009229.2:p.Ile703LeufsTer27
NM_007299.3:c.2033del	NP_009230.2:p.Asn678IlefsTer?
NM_007300.3:c.5482del	NP_009231.2:p.Ile1828LeufsTer27
NR_027676.1:n.5555del
NM_007294.4:c.5419del MANE Select	NP_009225.1:p.Ile1807LeufsTer27
NM_007297.4:c.5278del	NP_009228.2:p.Ile1760LeufsTer27
NM_007299.4:c.2033del	NP_009230.2:p.Asn678IlefsTer?
NM_007300.4:c.5482del	NP_009231.2:p.Ile1828LeufsTer27
NR_027676.2:n.5596del