Canonical Allele Identifier: CA10581594

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 236274
• ClinVar RCV Id: RCV000225437
• dbSNP Id: rs878853296
• MyVariant Identifiers: chr17:g.41197788_41197791del (hg19) ; chr17:g.43045771_43045774del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045771_43045774del , CM000679.2:g.43045771_43045774del	GRCh38
NC_000017.10:g.41197788_41197791del , CM000679.1:g.41197788_41197791del	GRCh37
NC_000017.9:g.38451314_38451317del	NCBI36
NG_005905.2:g.172210_172213del , LRG_292:g.172210_172213del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5493_5496del	ENSP00000417241.2:p.Val1832ProfsTer9
ENST00000470026.6:c.5496_5499del	ENSP00000419274.2:p.Val1833ProfsTer9
ENST00000473961.6:c.5370_5373del	ENSP00000420201.2:p.Val1791ProfsTer9
ENST00000476777.6:c.5490_5493del	ENSP00000417554.2:p.Val1831ProfsTer9
ENST00000477152.6:c.5418_5421del	ENSP00000419988.2:p.Val1807ProfsTer9
ENST00000478531.6:c.2184_2187del	ENSP00000420412.2:p.Val729ProfsTer9
ENST00000489037.2:c.5418_5421del	ENSP00000420781.2:p.Val1807ProfsTer9
ENST00000493919.6:c.2046_2049del	ENSP00000418819.2:p.Val683ProfsTer9
ENST00000494123.6:c.5496_5499del	ENSP00000419103.2:p.Val1833ProfsTer9
ENST00000497488.2:c.4608_4611del	ENSP00000418986.2:p.Val1537ProfsTer9
ENST00000618469.2:c.5496_5499del	ENSP00000478114.2:p.Val1833ProfsTer9
ENST00000634433.2:c.5373_5376del	ENSP00000489431.2:p.Val1792ProfsTer9
ENST00000644379.2:c.5562_5565del	ENSP00000496570.2:p.Val1855ProfsTer9
ENST00000644555.2:c.2046_2049del	ENSP00000494614.2:p.Val683ProfsTer9
ENST00000652672.2:c.5355_5358del	ENSP00000498906.2:p.Val1786ProfsTer9
ENST00000484087.6:c.2058_2061del	ENSP00000419481.2:p.Val687ProfsTer9
ENST00000700081.1:n.1379_1382del
ENST00000700082.1:n.860_863del
ENST00000357654.9:c.5496_5499del MANE Select	ENSP00000350283.3:p.Val1833ProfsTer9
ENST00000471181.7:c.5559_5562del	ENSP00000418960.2:p.Val1854ProfsTer9
ENST00000644379.1:c.1883_1886del
ENST00000352993.7:c.2070_2073del	ENSP00000312236.5:p.Val691ProfsTer9
ENST00000357654.7:c.5496_5499del	ENSP00000350283.3:p.Val1833ProfsTer9
ENST00000461221.5:c.*5279_*5282del	ENSP00000418548.1:n.*5279_*5282del
ENST00000468300.5:c.*10_*13del	ENSP00000417148.1:n.*10_*13del
ENST00000471181.6:c.5559_5562del	ENSP00000418960.2:p.Val1854ProfsTer9
ENST00000491747.6:c.2184_2187del	ENSP00000420705.2:p.Val729ProfsTer9
ENST00000493795.5:c.5355_5358del	ENSP00000418775.1:p.Val1786ProfsTer9
ENST00000586385.5:c.426_429del	ENSP00000465818.1:p.Val143ProfsTer9
ENST00000591534.5:c.969_972del	ENSP00000467329.1:p.Val324ProfsTer9
ENST00000591849.5:c.195_198del	ENSP00000465347.1:p.Val66ProfsTer9
NM_007294.3:c.5496_5499del , LRG_292t1:c.5496_5499del	NP_009225.1:p.Val1833ProfsTer9
NM_007297.3:c.5355_5358del	NP_009228.2:p.Val1786ProfsTer9
NM_007298.3:c.2184_2187del	NP_009229.2:p.Val729ProfsTer9
NM_007299.3:c.*10_*13del	NP_009230.2:n.*10_*13del
NM_007300.3:c.5559_5562del	NP_009231.2:p.Val1854ProfsTer9
NR_027676.1:n.5632_5635del
NM_007294.4:c.5496_5499del MANE Select	NP_009225.1:p.Val1833ProfsTer9
NM_007297.4:c.5355_5358del	NP_009228.2:p.Val1786ProfsTer9
NM_007299.4:c.*10_*13del	NP_009230.2:n.*10_*13del
NM_007300.4:c.5559_5562del	NP_009231.2:p.Val1854ProfsTer9
NR_027676.2:n.5673_5676del