Canonical Allele Identifier: CA658684041

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 496381
• ClinVar RCV Id: RCV000588319
• dbSNP Id: rs1555596265

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43104101_43104104delinsA , CM000679.2:g.43104101_43104104delinsA	GRCh38
NC_000017.10:g.41256118_41256121delinsA , CM000679.1:g.41256118_41256121delinsA	GRCh37
NC_000017.9:g.38509644_38509647delinsA	NCBI36
NG_005905.2:g.113880_113883delinsT , LRG_292:g.113880_113883delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.505+18_505+21delinsT
ENST00000461574.2:c.441+18_441+21delinsT	ENSP00000417241.2:n.441+18_441+21delinsT
ENST00000470026.6:c.441+18_441+21delinsT	ENSP00000419274.2:n.441+18_441+21delinsT
ENST00000473961.6:c.441+18_441+21delinsT	ENSP00000420201.2:n.441+18_441+21delinsT
ENST00000476777.6:c.441+18_441+21delinsT	ENSP00000417554.2:n.441+18_441+21delinsT
ENST00000477152.6:c.363+18_363+21delinsT	ENSP00000419988.2:n.363+18_363+21delinsT
ENST00000478531.6:c.441+18_441+21delinsT	ENSP00000420412.2:n.441+18_441+21delinsT
ENST00000489037.2:c.363+18_363+21delinsT	ENSP00000420781.2:n.363+18_363+21delinsT
ENST00000493919.6:c.300+18_300+21delinsT	ENSP00000418819.2:n.300+18_300+21delinsT
ENST00000494123.6:c.441+18_441+21delinsT	ENSP00000419103.2:n.441+18_441+21delinsT
ENST00000497488.2:c.-218-9244_-218-9241delinsT	ENSP00000418986.2:n.-218-9244_-218-9241delinsT
ENST00000618469.2:c.441+18_441+21delinsT	ENSP00000478114.2:n.441+18_441+21delinsT
ENST00000634433.2:c.441+18_441+21delinsT	ENSP00000489431.2:n.441+18_441+21delinsT
ENST00000644379.2:c.441+18_441+21delinsT	ENSP00000496570.2:n.441+18_441+21delinsT
ENST00000644555.2:c.300+18_300+21delinsT	ENSP00000494614.2:n.300+18_300+21delinsT
ENST00000652672.2:c.300+18_300+21delinsT	ENSP00000498906.2:n.300+18_300+21delinsT
ENST00000484087.6:c.441+18_441+21delinsT	ENSP00000419481.2:n.441+18_441+21delinsT
ENST00000700182.1:c.363+18_363+21delinsT	ENSP00000514849.1:n.363+18_363+21delinsT
ENST00000700183.1:c.*355+18_*355+21delinsT	ENSP00000514850.1:n.*355+18_*355+21delinsT
ENST00000700184.1:n.684+18_684+21delinsT
ENST00000357654.9:c.441+18_441+21delinsT MANE Select	ENSP00000350283.3:n.441+18_441+21delinsT
ENST00000471181.7:c.441+18_441+21delinsT	ENSP00000418960.2:n.441+18_441+21delinsT
ENST00000642945.1:c.*315+18_*315+21delinsT	ENSP00000495897.1:n.*315+18_*315+21delinsT
ENST00000652672.1:c.300+18_300+21delinsT	ENSP00000498906.1:n.300+18_300+21delinsT
ENST00000352993.7:c.441+18_441+21delinsT	ENSP00000312236.5:n.441+18_441+21delinsT
ENST00000354071.7:c.441+18_441+21delinsT	ENSP00000326002.7:n.441+18_441+21delinsT
ENST00000357654.7:c.441+18_441+21delinsT	ENSP00000350283.3:n.441+18_441+21delinsT
ENST00000461221.5:c.*227+18_*227+21delinsT	ENSP00000418548.1:n.*227+18_*227+21delinsT
ENST00000461798.5:c.*227+18_*227+21delinsT	ENSP00000417988.1:n.*227+18_*227+21delinsT
ENST00000468300.5:c.441+18_441+21delinsT	ENSP00000417148.1:n.441+18_441+21delinsT
ENST00000470026.5:c.441+18_441+21delinsT	ENSP00000419274.1:n.441+18_441+21delinsT
ENST00000471181.6:c.441+18_441+21delinsT	ENSP00000418960.2:n.441+18_441+21delinsT
ENST00000473961.5:c.164+18_164+21delinsT
ENST00000476777.5:c.441+18_441+21delinsT	ENSP00000417554.1:n.441+18_441+21delinsT
ENST00000477152.5:c.363+18_363+21delinsT	ENSP00000419988.1:n.363+18_363+21delinsT
ENST00000478531.5:c.441+18_441+21delinsT	ENSP00000420412.1:n.441+18_441+21delinsT
ENST00000484087.5:c.189+18_189+21delinsT	ENSP00000419481.1:n.189+18_189+21delinsT
ENST00000487825.5:c.189+18_189+21delinsT	ENSP00000418212.1:n.189+18_189+21delinsT
ENST00000491747.6:c.441+18_441+21delinsT	ENSP00000420705.2:n.441+18_441+21delinsT
ENST00000492859.5:c.*377+18_*377+21delinsT	ENSP00000420253.1:n.*377+18_*377+21delinsT
ENST00000493795.5:c.300+18_300+21delinsT	ENSP00000418775.1:n.300+18_300+21delinsT
ENST00000493919.5:c.300+18_300+21delinsT	ENSP00000418819.1:n.300+18_300+21delinsT
ENST00000494123.5:c.441+18_441+21delinsT	ENSP00000419103.1:n.441+18_441+21delinsT
ENST00000497488.1:c.-218-9244_-218-9241delinsT	ENSP00000418986.1:n.-218-9244_-218-9241delinsT
ENST00000586385.5:c.4+21078_4+21081delinsT	ENSP00000465818.1:n.4+21078_4+21081delinsT
ENST00000591534.5:c.-44+21167_-44+21170delinsT	ENSP00000467329.1:n.-44+21167_-44+21170delinsT
ENST00000591849.5:c.-99+21167_-99+21170delinsT	ENSP00000465347.1:n.-99+21167_-99+21170delinsT
ENST00000634433.1:c.441+18_441+21delinsT	ENSP00000489431.1:n.441+18_441+21delinsT
NM_007294.3:c.441+18_441+21delinsT , LRG_292t1:c.441+18_441+21delinsT	NP_009225.1:n.441+18_441+21delinsT
NM_007297.3:c.300+18_300+21delinsT	NP_009228.2:n.300+18_300+21delinsT
NM_007298.3:c.441+18_441+21delinsT	NP_009229.2:n.441+18_441+21delinsT
NM_007299.3:c.441+18_441+21delinsT	NP_009230.2:n.441+18_441+21delinsT
NM_007300.3:c.441+18_441+21delinsT	NP_009231.2:n.441+18_441+21delinsT
NR_027676.1:n.580+18_580+21delinsT
NM_007294.4:c.441+18_441+21delinsT MANE Select	NP_009225.1:n.441+18_441+21delinsT
NM_007297.4:c.300+18_300+21delinsT	NP_009228.2:n.300+18_300+21delinsT
NM_007299.4:c.441+18_441+21delinsT	NP_009230.2:n.441+18_441+21delinsT
NM_007300.4:c.441+18_441+21delinsT	NP_009231.2:n.441+18_441+21delinsT
NR_027676.2:n.621+18_621+21delinsT