Canonical Allele Identifier: CA1139665585

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 989427
• ClinVar RCV Id: RCV001271027
• dbSNP Id: rs886040242

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074339del , CM000679.2:g.43074339del	GRCh38
NC_000017.10:g.41226356del , CM000679.1:g.41226356del	GRCh37
NC_000017.9:g.38479882del	NCBI36
NG_005905.2:g.143646del , LRG_292:g.143646del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4665del	ENSP00000417241.2:p.Asp1556IlefsTer2
ENST00000470026.6:c.4668del	ENSP00000419274.2:p.Asp1557IlefsTer2
ENST00000473961.6:c.4542del	ENSP00000420201.2:p.Asp1515IlefsTer2
ENST00000476777.6:c.4662del	ENSP00000417554.2:p.Asp1555IlefsTer2
ENST00000477152.6:c.4590del	ENSP00000419988.2:p.Asp1531IlefsTer2
ENST00000478531.6:c.1356del	ENSP00000420412.2:p.Asp453IlefsTer2
ENST00000489037.2:c.4590del	ENSP00000420781.2:p.Asp1531IlefsTer2
ENST00000493919.6:c.1218del	ENSP00000418819.2:p.Asp407IlefsTer2
ENST00000494123.6:c.4668del	ENSP00000419103.2:p.Asp1557IlefsTer2
ENST00000497488.2:c.3780del	ENSP00000418986.2:p.Asp1261IlefsTer2
ENST00000618469.2:c.4668del	ENSP00000478114.2:p.Asp1557IlefsTer2
ENST00000634433.2:c.4545del	ENSP00000489431.2:p.Asp1516IlefsTer2
ENST00000644379.2:c.4734del	ENSP00000496570.2:p.Asp1579IlefsTer2
ENST00000644555.2:c.1218del	ENSP00000494614.2:p.Asp407IlefsTer2
ENST00000652672.2:c.4527del	ENSP00000498906.2:p.Asp1510IlefsTer2
ENST00000484087.6:c.1230del	ENSP00000419481.2:p.Asp411IlefsTer2
ENST00000700182.1:c.1275del	ENSP00000514849.1:p.Asp426IlefsTer2
ENST00000357654.9:c.4668del MANE Select	ENSP00000350283.3:p.Asp1557IlefsTer2
ENST00000471181.7:c.4731del	ENSP00000418960.2:p.Asp1578IlefsTer2
ENST00000644379.1:c.1055del
ENST00000352993.7:c.1242del	ENSP00000312236.5:p.Asp415IlefsTer2
ENST00000357654.7:c.4668del	ENSP00000350283.3:p.Asp1557IlefsTer2
ENST00000461221.5:c.*4451del	ENSP00000418548.1:n.*4451del
ENST00000468300.5:c.1356del	ENSP00000417148.1:p.Asp453IlefsTer2
ENST00000471181.6:c.4731del	ENSP00000418960.2:p.Asp1578IlefsTer2
ENST00000478531.5:c.1356del	ENSP00000420412.1:p.Asp453IlefsTer2
ENST00000484087.5:c.981del	ENSP00000419481.1:p.Asp328IlefsTer2
ENST00000491747.6:c.1356del	ENSP00000420705.2:p.Asp453IlefsTer2
ENST00000493795.5:c.4527del	ENSP00000418775.1:p.Asp1510IlefsTer2
ENST00000493919.5:c.1218del	ENSP00000418819.1:p.Asp407IlefsTer2
ENST00000586385.5:c.5-10387del	ENSP00000465818.1:n.5-10387del
ENST00000591534.5:c.141del	ENSP00000467329.1:p.Asp48IlefsTer2
ENST00000591849.5:c.-98-24148del	ENSP00000465347.1:n.-98-24148del
NM_007294.3:c.4668del , LRG_292t1:c.4668del	NP_009225.1:p.Asp1557IlefsTer2
NM_007297.3:c.4527del	NP_009228.2:p.Asp1510IlefsTer2
NM_007298.3:c.1356del	NP_009229.2:p.Asp453IlefsTer2
NM_007299.3:c.1356del	NP_009230.2:p.Asp453IlefsTer2
NM_007300.3:c.4731del	NP_009231.2:p.Asp1578IlefsTer2
NR_027676.1:n.4804del
NM_007294.4:c.4668del MANE Select	NP_009225.1:p.Asp1557IlefsTer2
NM_007297.4:c.4527del	NP_009228.2:p.Asp1510IlefsTer2
NM_007299.4:c.1356del	NP_009230.2:p.Asp453IlefsTer2
NM_007300.4:c.4731del	NP_009231.2:p.Asp1578IlefsTer2
NR_027676.2:n.4845del