Canonical Allele Identifier: CA2580094445

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1740044
• ClinVar RCV Id: RCV002332381

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076605_43076609del , CM000679.2:g.43076605_43076609del	GRCh38
NC_000017.10:g.41228622_41228626del , CM000679.1:g.41228622_41228626del	GRCh37
NC_000017.9:g.38482148_38482152del	NCBI36
NG_005905.2:g.141377_141381del , LRG_292:g.141377_141381del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4362_4366del	ENSP00000417241.2:p.Leu1454PhefsTer5
ENST00000470026.6:c.4365_4369del	ENSP00000419274.2:p.Leu1455PhefsTer5
ENST00000473961.6:c.4239_4243del	ENSP00000420201.2:p.Leu1413PhefsTer5
ENST00000476777.6:c.4359_4363del	ENSP00000417554.2:p.Leu1453PhefsTer5
ENST00000477152.6:c.4287_4291del	ENSP00000419988.2:p.Leu1429PhefsTer5
ENST00000478531.6:c.1053_1057del	ENSP00000420412.2:p.Leu351PhefsTer5
ENST00000489037.2:c.4287_4291del	ENSP00000420781.2:p.Leu1429PhefsTer5
ENST00000493919.6:c.915_919del	ENSP00000418819.2:p.Leu305PhefsTer5
ENST00000494123.6:c.4365_4369del	ENSP00000419103.2:p.Leu1455PhefsTer5
ENST00000497488.2:c.3477_3481del	ENSP00000418986.2:p.Leu1159PhefsTer5
ENST00000618469.2:c.4365_4369del	ENSP00000478114.2:p.Leu1455PhefsTer5
ENST00000634433.2:c.4242_4246del	ENSP00000489431.2:p.Leu1414PhefsTer5
ENST00000644379.2:c.4431_4435del	ENSP00000496570.2:p.Leu1477PhefsTer5
ENST00000644555.2:c.915_919del	ENSP00000494614.2:p.Leu305PhefsTer5
ENST00000652672.2:c.4224_4228del	ENSP00000498906.2:p.Leu1408PhefsTer5
ENST00000484087.6:c.927_931del	ENSP00000419481.2:p.Leu309PhefsTer5
ENST00000700182.1:c.972_976del	ENSP00000514849.1:p.Leu324PhefsTer5
ENST00000357654.9:c.4365_4369del MANE Select	ENSP00000350283.3:p.Leu1455PhefsTer5
ENST00000471181.7:c.4428_4432del	ENSP00000418960.2:p.Leu1476PhefsTer5
ENST00000644379.1:c.752_756del
ENST00000352993.7:c.939_943del	ENSP00000312236.5:p.Leu313PhefsTer5
ENST00000357654.7:c.4365_4369del	ENSP00000350283.3:p.Leu1455PhefsTer5
ENST00000461221.5:c.*4148_*4152del	ENSP00000418548.1:n.*4148_*4152del
ENST00000461574.1:c.656_660del
ENST00000468300.5:c.1053_1057del	ENSP00000417148.1:p.Leu351PhefsTer5
ENST00000471181.6:c.4428_4432del	ENSP00000418960.2:p.Leu1476PhefsTer5
ENST00000478531.5:c.1053_1057del	ENSP00000420412.1:p.Leu351PhefsTer5
ENST00000484087.5:c.678_682del	ENSP00000419481.1:p.Leu226PhefsTer5
ENST00000487825.5:c.681_685del	ENSP00000418212.1:p.Leu227PhefsTer5
ENST00000491747.6:c.1053_1057del	ENSP00000420705.2:p.Leu351PhefsTer5
ENST00000493795.5:c.4224_4228del	ENSP00000418775.1:p.Leu1408PhefsTer5
ENST00000493919.5:c.915_919del	ENSP00000418819.1:p.Leu305PhefsTer5
ENST00000586385.5:c.5-12656_5-12652del	ENSP00000465818.1:n.5-12656_5-12652del
ENST00000591534.5:c.-43-2086_-43-2082del	ENSP00000467329.1:n.-43-2086_-43-2082del
ENST00000591849.5:c.-98-26417_-98-26413del	ENSP00000465347.1:n.-98-26417_-98-26413del
ENST00000621897.1:n.256_260del
NM_007294.3:c.4365_4369del , LRG_292t1:c.4365_4369del	NP_009225.1:p.Leu1455PhefsTer5
NM_007297.3:c.4224_4228del	NP_009228.2:p.Leu1408PhefsTer5
NM_007298.3:c.1053_1057del	NP_009229.2:p.Leu351PhefsTer5
NM_007299.3:c.1053_1057del	NP_009230.2:p.Leu351PhefsTer5
NM_007300.3:c.4428_4432del	NP_009231.2:p.Leu1476PhefsTer5
NR_027676.1:n.4501_4505del
NM_007294.4:c.4365_4369del MANE Select	NP_009225.1:p.Leu1455PhefsTer5
NM_007297.4:c.4224_4228del	NP_009228.2:p.Leu1408PhefsTer5
NM_007299.4:c.1053_1057del	NP_009230.2:p.Leu351PhefsTer5
NM_007300.4:c.4428_4432del	NP_009231.2:p.Leu1476PhefsTer5
NR_027676.2:n.4542_4546del