Canonical Allele Identifier: CA2580094430

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2059457
• ClinVar RCV Id: RCV002952809

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076504_43076507del , CM000679.2:g.43076504_43076507del	GRCh38
NC_000017.10:g.41228521_41228524del , CM000679.1:g.41228521_41228524del	GRCh37
NC_000017.9:g.38482047_38482050del	NCBI36
NG_005905.2:g.141479_141482del , LRG_292:g.141479_141482del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4464_4467del	ENSP00000417241.2:p.Lys1488AsnfsTer15
ENST00000470026.6:c.4467_4470del	ENSP00000419274.2:p.Lys1489AsnfsTer15
ENST00000473961.6:c.4341_4344del	ENSP00000420201.2:p.Lys1447AsnfsTer15
ENST00000476777.6:c.4461_4464del	ENSP00000417554.2:p.Lys1487AsnfsTer15
ENST00000477152.6:c.4389_4392del	ENSP00000419988.2:p.Lys1463AsnfsTer15
ENST00000478531.6:c.1155_1158del	ENSP00000420412.2:p.Lys385AsnfsTer15
ENST00000489037.2:c.4389_4392del	ENSP00000420781.2:p.Lys1463AsnfsTer15
ENST00000493919.6:c.1017_1020del	ENSP00000418819.2:p.Lys339AsnfsTer15
ENST00000494123.6:c.4467_4470del	ENSP00000419103.2:p.Lys1489AsnfsTer15
ENST00000497488.2:c.3579_3582del	ENSP00000418986.2:p.Lys1193AsnfsTer15
ENST00000618469.2:c.4467_4470del	ENSP00000478114.2:p.Lys1489AsnfsTer15
ENST00000634433.2:c.4344_4347del	ENSP00000489431.2:p.Lys1448AsnfsTer15
ENST00000644379.2:c.4533_4536del	ENSP00000496570.2:p.Lys1511AsnfsTer15
ENST00000644555.2:c.1017_1020del	ENSP00000494614.2:p.Lys339AsnfsTer15
ENST00000652672.2:c.4326_4329del	ENSP00000498906.2:p.Lys1442AsnfsTer15
ENST00000484087.6:c.1029_1032del	ENSP00000419481.2:p.Lys343AsnfsTer15
ENST00000700182.1:c.1074_1077del	ENSP00000514849.1:p.Lys358AsnfsTer15
ENST00000357654.9:c.4467_4470del MANE Select	ENSP00000350283.3:p.Lys1489AsnfsTer15
ENST00000471181.7:c.4530_4533del	ENSP00000418960.2:p.Lys1510AsnfsTer15
ENST00000644379.1:c.854_857del
ENST00000352993.7:c.1041_1044del	ENSP00000312236.5:p.Lys347AsnfsTer15
ENST00000357654.7:c.4467_4470del	ENSP00000350283.3:p.Lys1489AsnfsTer15
ENST00000461221.5:c.*4250_*4253del	ENSP00000418548.1:n.*4250_*4253del
ENST00000468300.5:c.1155_1158del	ENSP00000417148.1:p.Lys385AsnfsTer15
ENST00000471181.6:c.4530_4533del	ENSP00000418960.2:p.Lys1510AsnfsTer15
ENST00000478531.5:c.1155_1158del	ENSP00000420412.1:p.Lys385AsnfsTer15
ENST00000484087.5:c.780_783del	ENSP00000419481.1:p.Lys260AsnfsTer15
ENST00000487825.5:c.783_786del	ENSP00000418212.1:p.Lys261AsnfsTer?
ENST00000491747.6:c.1155_1158del	ENSP00000420705.2:p.Lys385AsnfsTer15
ENST00000493795.5:c.4326_4329del	ENSP00000418775.1:p.Lys1442AsnfsTer15
ENST00000493919.5:c.1017_1020del	ENSP00000418819.1:p.Lys339AsnfsTer15
ENST00000586385.5:c.5-12554_5-12551del	ENSP00000465818.1:n.5-12554_5-12551del
ENST00000591534.5:c.-43-1984_-43-1981del	ENSP00000467329.1:n.-43-1984_-43-1981del
ENST00000591849.5:c.-98-26315_-98-26312del	ENSP00000465347.1:n.-98-26315_-98-26312de...
ENST00000621897.1:n.358_361del
NM_007294.3:c.4467_4470del , LRG_292t1:c.4467_4470del	NP_009225.1:p.Lys1489AsnfsTer15
NM_007297.3:c.4326_4329del	NP_009228.2:p.Lys1442AsnfsTer15
NM_007298.3:c.1155_1158del	NP_009229.2:p.Lys385AsnfsTer15
NM_007299.3:c.1155_1158del	NP_009230.2:p.Lys385AsnfsTer15
NM_007300.3:c.4530_4533del	NP_009231.2:p.Lys1510AsnfsTer15
NR_027676.1:n.4603_4606del
NM_007294.4:c.4467_4470del MANE Select	NP_009225.1:p.Lys1489AsnfsTer15
NM_007297.4:c.4326_4329del	NP_009228.2:p.Lys1442AsnfsTer15
NM_007299.4:c.1155_1158del	NP_009230.2:p.Lys385AsnfsTer15
NM_007300.4:c.4530_4533del	NP_009231.2:p.Lys1510AsnfsTer15
NR_027676.2:n.4644_4647del