Canonical Allele Identifier: CA290834171

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55190
• ClinVar RCV Id: RCV000577191
• dbSNP Id: rs397509170
• MyVariant Identifiers: chr17:g.41228593del (hg19) ; chr17:g.43076576del (hg38)
• PubMed: PMID:19619314

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076577del , CM000679.2:g.43076577del	GRCh38
NC_000017.10:g.41228594del , CM000679.1:g.41228594del	GRCh37
NC_000017.9:g.38482120del	NCBI36
NG_005905.2:g.141408del , LRG_292:g.141408del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4393del	ENSP00000417241.2:p.Ser1465AlafsTer?
ENST00000470026.6:c.4396del	ENSP00000419274.2:p.Ser1466AlafsTer?
ENST00000473961.6:c.4270del	ENSP00000420201.2:p.Ser1424AlafsTer?
ENST00000476777.6:c.4390del	ENSP00000417554.2:p.Ser1464AlafsTer?
ENST00000477152.6:c.4318del	ENSP00000419988.2:p.Ser1440AlafsTer?
ENST00000478531.6:c.1084del	ENSP00000420412.2:p.Ser362AlafsTer?
ENST00000489037.2:c.4318del	ENSP00000420781.2:p.Ser1440AlafsTer?
ENST00000493919.6:c.946del	ENSP00000418819.2:p.Ser316AlafsTer?
ENST00000494123.6:c.4396del	ENSP00000419103.2:p.Ser1466AlafsTer?
ENST00000497488.2:c.3508del	ENSP00000418986.2:p.Ser1170AlafsTer?
ENST00000618469.2:c.4396del	ENSP00000478114.2:p.Ser1466AlafsTer?
ENST00000634433.2:c.4273del	ENSP00000489431.2:p.Ser1425AlafsTer?
ENST00000644379.2:c.4462del	ENSP00000496570.2:p.Ser1488AlafsTer?
ENST00000644555.2:c.946del	ENSP00000494614.2:p.Ser316AlafsTer?
ENST00000652672.2:c.4255del	ENSP00000498906.2:p.Ser1419AlafsTer?
ENST00000484087.6:c.958del	ENSP00000419481.2:p.Ser320AlafsTer?
ENST00000700182.1:c.1003del	ENSP00000514849.1:p.Ser335AlafsTer?
ENST00000357654.9:c.4396del MANE Select	ENSP00000350283.3:p.Ser1466AlafsTer?
ENST00000471181.7:c.4459del	ENSP00000418960.2:p.Ser1487AlafsTer?
ENST00000644379.1:c.783del
ENST00000352993.7:c.970del	ENSP00000312236.5:p.Ser324AlafsTer?
ENST00000357654.7:c.4396del	ENSP00000350283.3:p.Ser1466AlafsTer?
ENST00000461221.5:c.*4179del	ENSP00000418548.1:n.*4179del
ENST00000461574.1:c.687del
ENST00000468300.5:c.1084del	ENSP00000417148.1:p.Ser362AlafsTer?
ENST00000471181.6:c.4459del	ENSP00000418960.2:p.Ser1487AlafsTer?
ENST00000478531.5:c.1084del	ENSP00000420412.1:p.Ser362AlafsTer?
ENST00000484087.5:c.709del	ENSP00000419481.1:p.Ser237AlafsTer?
ENST00000487825.5:c.712del	ENSP00000418212.1:p.Ser238AlafsTer?
ENST00000491747.6:c.1084del	ENSP00000420705.2:p.Ser362AlafsTer?
ENST00000493795.5:c.4255del	ENSP00000418775.1:p.Ser1419AlafsTer?
ENST00000493919.5:c.946del	ENSP00000418819.1:p.Ser316AlafsTer?
ENST00000586385.5:c.5-12625del	ENSP00000465818.1:n.5-12625del
ENST00000591534.5:c.-43-2055del	ENSP00000467329.1:n.-43-2055del
ENST00000591849.5:c.-98-26386del	ENSP00000465347.1:n.-98-26386del
ENST00000621897.1:n.287del
NM_007294.3:c.4396del , LRG_292t1:c.4396del	NP_009225.1:p.Ser1466AlafsTer?
NM_007297.3:c.4255del	NP_009228.2:p.Ser1419AlafsTer?
NM_007298.3:c.1084del	NP_009229.2:p.Ser362AlafsTer?
NM_007299.3:c.1084del	NP_009230.2:p.Ser362AlafsTer?
NM_007300.3:c.4459del	NP_009231.2:p.Ser1487AlafsTer?
NR_027676.1:n.4532del
NM_007294.4:c.4396del MANE Select	NP_009225.1:p.Ser1466AlafsTer?
NM_007297.4:c.4255del	NP_009228.2:p.Ser1419AlafsTer?
NM_007299.4:c.1084del	NP_009230.2:p.Ser362AlafsTer?
NM_007300.4:c.4459del	NP_009231.2:p.Ser1487AlafsTer?
NR_027676.2:n.4573del