Canonical Allele Identifier: CA2573154021

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1325658
• ClinVar RCV Id: RCV002222234 ; RCV002329755
• dbSNP Id: rs2154149764

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082452_43082453del , CM000679.2:g.43082452_43082453del	GRCh38
NC_000017.10:g.41234469_41234470del , CM000679.1:g.41234469_41234470del	GRCh37
NC_000017.9:g.38487995_38487996del	NCBI36
NG_005905.2:g.135531_135532del , LRG_292:g.135531_135532del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4308_4309del	ENSP00000417241.2:p.Ser1437CysfsTer3
ENST00000470026.6:c.4308_4309del	ENSP00000419274.2:p.Ser1437CysfsTer3
ENST00000473961.6:c.4182_4183del	ENSP00000420201.2:p.Ser1395CysfsTer3
ENST00000476777.6:c.4302_4303del	ENSP00000417554.2:p.Ser1435CysfsTer3
ENST00000477152.6:c.4230_4231del	ENSP00000419988.2:p.Ser1411CysfsTer3
ENST00000478531.6:c.996_997del	ENSP00000420412.2:p.Ser333CysfsTer3
ENST00000489037.2:c.4230_4231del	ENSP00000420781.2:p.Ser1411CysfsTer3
ENST00000493919.6:c.858_859del	ENSP00000418819.2:p.Ser287CysfsTer3
ENST00000494123.6:c.4308_4309del	ENSP00000419103.2:p.Ser1437CysfsTer3
ENST00000497488.2:c.3420_3421del	ENSP00000418986.2:p.Ser1141CysfsTer3
ENST00000618469.2:c.4308_4309del	ENSP00000478114.2:p.Ser1437CysfsTer3
ENST00000634433.2:c.4185_4186del	ENSP00000489431.2:p.Ser1396CysfsTer3
ENST00000644379.2:c.4308_4309del	ENSP00000496570.2:p.Ser1437CysfsTer3
ENST00000644555.2:c.858_859del	ENSP00000494614.2:p.Ser287CysfsTer3
ENST00000652672.2:c.4167_4168del	ENSP00000498906.2:p.Ser1390CysfsTer3
ENST00000484087.6:c.873_874del	ENSP00000419481.2:p.Ser292CysfsTer3
ENST00000700182.1:c.918_919del	ENSP00000514849.1:p.Ser307CysfsTer3
ENST00000357654.9:c.4308_4309del MANE Select	ENSP00000350283.3:p.Ser1437CysfsTer3
ENST00000471181.7:c.4308_4309del	ENSP00000418960.2:p.Ser1437CysfsTer3
ENST00000644379.1:c.629_630del
ENST00000352993.7:c.882_883del	ENSP00000312236.5:p.Ser295CysfsTer3
ENST00000357654.7:c.4308_4309del	ENSP00000350283.3:p.Ser1437CysfsTer3
ENST00000461221.5:c.*4091_*4092del	ENSP00000418548.1:n.*4091_*4092del
ENST00000461574.1:c.602_603del
ENST00000468300.5:c.999_1000del	ENSP00000417148.1:p.Ser334CysfsTer3
ENST00000471181.6:c.4308_4309del	ENSP00000418960.2:p.Ser1437CysfsTer3
ENST00000478531.5:c.996_997del	ENSP00000420412.1:p.Ser333CysfsTer3
ENST00000484087.5:c.621_622del	ENSP00000419481.1:p.Ser208CysfsTer3
ENST00000487825.5:c.624_625del	ENSP00000418212.1:p.Ser209CysfsTer3
ENST00000491747.6:c.999_1000del	ENSP00000420705.2:p.Ser334CysfsTer3
ENST00000493795.5:c.4167_4168del	ENSP00000418775.1:p.Ser1390CysfsTer3
ENST00000493919.5:c.858_859del	ENSP00000418819.1:p.Ser287CysfsTer3
ENST00000586385.5:c.5-18502_5-18501del	ENSP00000465818.1:n.5-18502_5-18501del
ENST00000591534.5:c.-43-7932_-43-7931del	ENSP00000467329.1:n.-43-7932_-43-7931del
ENST00000591849.5:c.-98-32263_-98-32262del	ENSP00000465347.1:n.-98-32263_-98-32262de...
ENST00000621897.1:n.202_203del
NM_007294.3:c.4308_4309del , LRG_292t1:c.4308_4309del	NP_009225.1:p.Ser1437CysfsTer3
NM_007297.3:c.4167_4168del	NP_009228.2:p.Ser1390CysfsTer3
NM_007298.3:c.999_1000del	NP_009229.2:p.Ser334CysfsTer3
NM_007299.3:c.999_1000del	NP_009230.2:p.Ser334CysfsTer3
NM_007300.3:c.4308_4309del	NP_009231.2:p.Ser1437CysfsTer3
NR_027676.1:n.4444_4445del
NM_007294.4:c.4308_4309del MANE Select	NP_009225.1:p.Ser1437CysfsTer3
NM_007297.4:c.4167_4168del	NP_009228.2:p.Ser1390CysfsTer3
NM_007299.4:c.999_1000del	NP_009230.2:p.Ser334CysfsTer3
NM_007300.4:c.4308_4309del	NP_009231.2:p.Ser1437CysfsTer3
NR_027676.2:n.4485_4486del