Canonical Allele Identifier: CA10589670

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266468
• ClinVar RCV Id: RCV000257525
• dbSNP Id: rs886040223
• MyVariant Identifiers: chr17:g.41234469del (hg19) ; chr17:g.43082452del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082453del , CM000679.2:g.43082453del	GRCh38
NC_000017.10:g.41234470del , CM000679.1:g.41234470del	GRCh37
NC_000017.9:g.38487996del	NCBI36
NG_005905.2:g.135532del , LRG_292:g.135532del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4309del	ENSP00000417241.2:p.Ser1437LeufsTer18
ENST00000470026.6:c.4309del	ENSP00000419274.2:p.Ser1437LeufsTer19
ENST00000473961.6:c.4183del	ENSP00000420201.2:p.Ser1395LeufsTer19
ENST00000476777.6:c.4303del	ENSP00000417554.2:p.Ser1435LeufsTer19
ENST00000477152.6:c.4231del	ENSP00000419988.2:p.Ser1411LeufsTer19
ENST00000478531.6:c.997del	ENSP00000420412.2:p.Ser333LeufsTer19
ENST00000489037.2:c.4231del	ENSP00000420781.2:p.Ser1411LeufsTer19
ENST00000493919.6:c.859del	ENSP00000418819.2:p.Ser287LeufsTer19
ENST00000494123.6:c.4309del	ENSP00000419103.2:p.Ser1437LeufsTer19
ENST00000497488.2:c.3421del	ENSP00000418986.2:p.Ser1141LeufsTer19
ENST00000618469.2:c.4309del	ENSP00000478114.2:p.Ser1437LeufsTer19
ENST00000634433.2:c.4186del	ENSP00000489431.2:p.Ser1396LeufsTer19
ENST00000644379.2:c.4309del	ENSP00000496570.2:p.Ser1437LeufsTer?
ENST00000644555.2:c.859del	ENSP00000494614.2:p.Ser287LeufsTer19
ENST00000652672.2:c.4168del	ENSP00000498906.2:p.Ser1390LeufsTer19
ENST00000484087.6:c.874del	ENSP00000419481.2:p.Ser292LeufsTer18
ENST00000700182.1:c.919del	ENSP00000514849.1:p.Ser307LeufsTer18
ENST00000357654.9:c.4309del MANE Select	ENSP00000350283.3:p.Ser1437LeufsTer19
ENST00000471181.7:c.4309del	ENSP00000418960.2:p.Ser1437LeufsTer?
ENST00000644379.1:c.630del
ENST00000352993.7:c.883del	ENSP00000312236.5:p.Ser295LeufsTer19
ENST00000357654.7:c.4309del	ENSP00000350283.3:p.Ser1437LeufsTer19
ENST00000461221.5:c.*4092del	ENSP00000418548.1:n.*4092del
ENST00000461574.1:c.603del
ENST00000468300.5:c.1000del	ENSP00000417148.1:p.Ser334LeufsTer18
ENST00000471181.6:c.4309del	ENSP00000418960.2:p.Ser1437LeufsTer?
ENST00000478531.5:c.997del	ENSP00000420412.1:p.Ser333LeufsTer19
ENST00000484087.5:c.622del	ENSP00000419481.1:p.Ser208LeufsTer19
ENST00000487825.5:c.625del	ENSP00000418212.1:p.Ser209LeufsTer19
ENST00000491747.6:c.1000del	ENSP00000420705.2:p.Ser334LeufsTer18
ENST00000493795.5:c.4168del	ENSP00000418775.1:p.Ser1390LeufsTer19
ENST00000493919.5:c.859del	ENSP00000418819.1:p.Ser287LeufsTer19
ENST00000586385.5:c.5-18501del	ENSP00000465818.1:n.5-18501del
ENST00000591534.5:c.-43-7931del	ENSP00000467329.1:n.-43-7931del
ENST00000591849.5:c.-98-32262del	ENSP00000465347.1:n.-98-32262del
ENST00000621897.1:n.203del
NM_007294.3:c.4309del , LRG_292t1:c.4309del	NP_009225.1:p.Ser1437LeufsTer19
NM_007297.3:c.4168del	NP_009228.2:p.Ser1390LeufsTer19
NM_007298.3:c.1000del	NP_009229.2:p.Ser334LeufsTer18
NM_007299.3:c.1000del	NP_009230.2:p.Ser334LeufsTer18
NM_007300.3:c.4309del	NP_009231.2:p.Ser1437LeufsTer?
NR_027676.1:n.4445del
NM_007294.4:c.4309del MANE Select	NP_009225.1:p.Ser1437LeufsTer19
NM_007297.4:c.4168del	NP_009228.2:p.Ser1390LeufsTer19
NM_007299.4:c.1000del	NP_009230.2:p.Ser334LeufsTer18
NM_007300.4:c.4309del	NP_009231.2:p.Ser1437LeufsTer?
NR_027676.2:n.4486del