Canonical Allele Identifier: CA10589663

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266476
• ClinVar RCV Id: RCV000257535 ; RCV001859515
• dbSNP Id: rs886040231
• MyVariant Identifiers: chr17:g.41228572del (hg19) ; chr17:g.43076555del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076557del , CM000679.2:g.43076557del	GRCh38
NC_000017.10:g.41228574del , CM000679.1:g.41228574del	GRCh37
NC_000017.9:g.38482100del	NCBI36
NG_005905.2:g.141429del , LRG_292:g.141429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4414del	ENSP00000417241.2:p.Ser1472LeufsTer?
ENST00000470026.6:c.4417del	ENSP00000419274.2:p.Ser1473LeufsTer?
ENST00000473961.6:c.4291del	ENSP00000420201.2:p.Ser1431LeufsTer?
ENST00000476777.6:c.4411del	ENSP00000417554.2:p.Ser1471LeufsTer?
ENST00000477152.6:c.4339del	ENSP00000419988.2:p.Ser1447LeufsTer?
ENST00000478531.6:c.1105del	ENSP00000420412.2:p.Ser369LeufsTer?
ENST00000489037.2:c.4339del	ENSP00000420781.2:p.Ser1447LeufsTer?
ENST00000493919.6:c.967del	ENSP00000418819.2:p.Ser323LeufsTer?
ENST00000494123.6:c.4417del	ENSP00000419103.2:p.Ser1473LeufsTer?
ENST00000497488.2:c.3529del	ENSP00000418986.2:p.Ser1177LeufsTer?
ENST00000618469.2:c.4417del	ENSP00000478114.2:p.Ser1473LeufsTer?
ENST00000634433.2:c.4294del	ENSP00000489431.2:p.Ser1432LeufsTer?
ENST00000644379.2:c.4483del	ENSP00000496570.2:p.Ser1495LeufsTer?
ENST00000644555.2:c.967del	ENSP00000494614.2:p.Ser323LeufsTer?
ENST00000652672.2:c.4276del	ENSP00000498906.2:p.Ser1426LeufsTer?
ENST00000484087.6:c.979del	ENSP00000419481.2:p.Ser327LeufsTer?
ENST00000700182.1:c.1024del	ENSP00000514849.1:p.Ser342LeufsTer?
ENST00000357654.9:c.4417del MANE Select	ENSP00000350283.3:p.Ser1473LeufsTer?
ENST00000471181.7:c.4480del	ENSP00000418960.2:p.Ser1494LeufsTer?
ENST00000644379.1:c.804del
ENST00000352993.7:c.991del	ENSP00000312236.5:p.Ser331LeufsTer?
ENST00000357654.7:c.4417del	ENSP00000350283.3:p.Ser1473LeufsTer?
ENST00000461221.5:c.*4200del	ENSP00000418548.1:n.*4200del
ENST00000461574.1:c.708del
ENST00000468300.5:c.1105del	ENSP00000417148.1:p.Ser369LeufsTer?
ENST00000471181.6:c.4480del	ENSP00000418960.2:p.Ser1494LeufsTer?
ENST00000478531.5:c.1105del	ENSP00000420412.1:p.Ser369LeufsTer?
ENST00000484087.5:c.730del	ENSP00000419481.1:p.Ser244LeufsTer?
ENST00000487825.5:c.733del	ENSP00000418212.1:p.Ser245LeufsTer?
ENST00000491747.6:c.1105del	ENSP00000420705.2:p.Ser369LeufsTer?
ENST00000493795.5:c.4276del	ENSP00000418775.1:p.Ser1426LeufsTer?
ENST00000493919.5:c.967del	ENSP00000418819.1:p.Ser323LeufsTer?
ENST00000586385.5:c.5-12604del	ENSP00000465818.1:n.5-12604del
ENST00000591534.5:c.-43-2034del	ENSP00000467329.1:n.-43-2034del
ENST00000591849.5:c.-98-26365del	ENSP00000465347.1:n.-98-26365del
ENST00000621897.1:n.308del
NM_007294.3:c.4417del , LRG_292t1:c.4417del	NP_009225.1:p.Ser1473LeufsTer?
NM_007297.3:c.4276del	NP_009228.2:p.Ser1426LeufsTer?
NM_007298.3:c.1105del	NP_009229.2:p.Ser369LeufsTer?
NM_007299.3:c.1105del	NP_009230.2:p.Ser369LeufsTer?
NM_007300.3:c.4480del	NP_009231.2:p.Ser1494LeufsTer?
NR_027676.1:n.4553del
NM_007294.4:c.4417del MANE Select	NP_009225.1:p.Ser1473LeufsTer?
NM_007297.4:c.4276del	NP_009228.2:p.Ser1426LeufsTer?
NM_007299.4:c.1105del	NP_009230.2:p.Ser369LeufsTer?
NM_007300.4:c.4480del	NP_009231.2:p.Ser1494LeufsTer?
NR_027676.2:n.4594del