Canonical Allele Identifier: CA003166

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55358
• ClinVar RCV Id: RCV000112469 ; RCV000238807 ; RCV000497274 ; RCV001386105 ; RCV000582738
• dbSNP Id: rs80357896
• gnomAD v4: 17-43067646-AG-A
• MyVariant Identifiers: chr17:g.41219664del (hg19) ; chr17:g.43067647del (hg38)
• PubMed: PMID:21156238 ; PMID:22752604 ; PMID:22874498 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067647del , CM000679.2:g.43067647del	GRCh38
NC_000017.10:g.41219664del , CM000679.1:g.41219664del	GRCh37
NC_000017.9:g.38473190del	NCBI36
NG_005905.2:g.150337del , LRG_292:g.150337del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5032del	ENSP00000417241.2:p.Leu1678Ter
ENST00000470026.6:c.5035del	ENSP00000419274.2:p.Leu1679Ter
ENST00000473961.6:c.4909del	ENSP00000420201.2:p.Leu1637Ter
ENST00000476777.6:c.5029del	ENSP00000417554.2:p.Leu1677Ter
ENST00000477152.6:c.4957del	ENSP00000419988.2:p.Leu1653Ter
ENST00000478531.6:c.1723del	ENSP00000420412.2:p.Leu575Ter
ENST00000489037.2:c.4957del	ENSP00000420781.2:p.Leu1653Ter
ENST00000493919.6:c.1585del	ENSP00000418819.2:p.Leu529Ter
ENST00000494123.6:c.5035del	ENSP00000419103.2:p.Leu1679Ter
ENST00000497488.2:c.4147del	ENSP00000418986.2:p.Leu1383Ter
ENST00000618469.2:c.5035del	ENSP00000478114.2:p.Leu1679Ter
ENST00000634433.2:c.4912del	ENSP00000489431.2:p.Leu1638Ter
ENST00000644379.2:c.5101del	ENSP00000496570.2:p.Leu1701Ter
ENST00000644555.2:c.1585del	ENSP00000494614.2:p.Leu529Ter
ENST00000652672.2:c.4894del	ENSP00000498906.2:p.Leu1632Ter
ENST00000484087.6:c.1597del	ENSP00000419481.2:p.Leu533Ter
ENST00000357654.9:c.5035del MANE Select	ENSP00000350283.3:p.Leu1679Ter
ENST00000471181.7:c.5098del	ENSP00000418960.2:p.Leu1700Ter
ENST00000644379.1:c.1422del
ENST00000352993.7:c.1609del	ENSP00000312236.5:p.Leu537Ter
ENST00000357654.7:c.5035del	ENSP00000350283.3:p.Leu1679Ter
ENST00000461221.5:c.*4818del	ENSP00000418548.1:n.*4818del
ENST00000468300.5:c.1723del	ENSP00000417148.1:p.Leu575Ter
ENST00000471181.6:c.5098del	ENSP00000418960.2:p.Leu1700Ter
ENST00000472490.1:n.188del
ENST00000478531.5:c.1723del	ENSP00000420412.1:p.Leu575Ter
ENST00000484087.5:c.1348del	ENSP00000419481.1:p.Leu450Ter
ENST00000491747.6:c.1723del	ENSP00000420705.2:p.Leu575Ter
ENST00000493795.5:c.4894del	ENSP00000418775.1:p.Leu1632Ter
ENST00000493919.5:c.1585del	ENSP00000418819.1:p.Leu529Ter
ENST00000586385.5:c.5-3696del	ENSP00000465818.1:n.5-3696del
ENST00000591534.5:c.508del	ENSP00000467329.1:p.Leu170Ter
ENST00000591849.5:c.-98-17457del	ENSP00000465347.1:n.-98-17457del
NM_007294.3:c.5035del , LRG_292t1:c.5035del	NP_009225.1:p.Leu1679Ter
NM_007297.3:c.4894del	NP_009228.2:p.Leu1632Ter
NM_007298.3:c.1723del	NP_009229.2:p.Leu575Ter
NM_007299.3:c.1723del	NP_009230.2:p.Leu575Ter
NM_007300.3:c.5098del	NP_009231.2:p.Leu1700Ter
NR_027676.1:n.5171del
NM_007294.4:c.5035del MANE Select	NP_009225.1:p.Leu1679Ter
NM_007297.4:c.4894del	NP_009228.2:p.Leu1632Ter
NM_007299.4:c.1723del	NP_009230.2:p.Leu575Ter
NM_007300.4:c.5098del	NP_009231.2:p.Leu1700Ter
NR_027676.2:n.5212del