Canonical Allele Identifier: CA2580094083

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1713243
• ClinVar RCV Id: RCV003156038

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43096459_43103875del , CM000679.2:g.43096459_43103875del	GRCh38
NC_000017.10:g.41248476_41255892del , CM000679.1:g.41248476_41255892del	GRCh37
NC_000017.9:g.38502002_38509418del	NCBI36
NG_005905.2:g.114111_121527del , LRG_292:g.114111_121527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.505+249_658-535del
ENST00000461574.2:c.441+249_594-535del
ENST00000470026.6:c.441+249_594-535del
ENST00000473961.6:c.441+249_545-1597del
ENST00000476777.6:c.441+249_591-535del
ENST00000477152.6:c.363+249_516-535del
ENST00000478531.6:c.441+249_591-535del
ENST00000489037.2:c.363+249_516-535del
ENST00000493919.6:c.300+249_453-535del
ENST00000494123.6:c.441+249_594-535del
ENST00000497488.2:c.-218-9013_-218-1597del	ENSP00000418986.2:n.-218-9013_-218-1597del
ENST00000618469.2:c.441+249_594-535del
ENST00000634433.2:c.441+249_548-1597del
ENST00000644379.2:c.441+249_594-535del
ENST00000644555.2:c.300+249_453-535del
ENST00000652672.2:c.300+249_453-535del
ENST00000484087.6:c.441+249_548-1597del
ENST00000700182.1:c.363+249_513-535del
ENST00000700183.1:c.*355+249_*602-535del
ENST00000357654.9:c.441+249_594-535del
ENST00000471181.7:c.441+249_594-535del
ENST00000642945.1:c.*315+249_*468-535del
ENST00000652672.1:c.300+249_453-535del
ENST00000352993.7:c.441+249_594-535del
ENST00000354071.7:c.441+249_594-535del
ENST00000357654.7:c.441+249_594-535del
ENST00000461221.5:c.*227+249_*377-535del
ENST00000468300.5:c.441+249_594-535del
ENST00000470026.5:c.441+249_594-535del
ENST00000471181.6:c.441+249_594-535del
ENST00000473961.5:c.164+249_268-1597del
ENST00000476777.5:c.441+249_591-535del
ENST00000477152.5:c.363+249_516-535del
ENST00000478531.5:c.441+249_591-535del
ENST00000484087.5:c.189+249_293-1597del
ENST00000487825.5:c.189+249_296-1597del
ENST00000491747.6:c.441+249_594-535del
ENST00000492859.5:c.*377+249_*530-535del
ENST00000493795.5:c.300+249_453-535del
ENST00000493919.5:c.300+249_453-535del
ENST00000494123.5:c.441+249_594-535del
ENST00000497488.1:c.-218-9013_-218-1597del	ENSP00000418986.1:n.-218-9013_-218-1597del
ENST00000586385.5:c.4+21309_4+28725del	ENSP00000465818.1:n.4+21309_4+28725del
ENST00000591534.5:c.-44+21398_-43-21936del	ENSP00000467329.1:n.-44+21398_-43-21936del
ENST00000591849.5:c.-99+21398_-99+28814del	ENSP00000465347.1:n.-99+21398_-99+28814del
ENST00000634433.1:c.441+249_548-1597del
NM_007294.3:c.441+249_594-535del , LRG_292t1:c.441+249_594-535del
NM_007297.3:c.300+249_453-535del
NM_007298.3:c.441+249_594-535del
NM_007299.3:c.441+249_594-535del
NM_007300.3:c.441+249_594-535del
NR_027676.1:n.580+249_730-535del
NM_007294.4:c.441+249_594-535del
NM_007297.4:c.300+249_453-535del
NM_007299.4:c.441+249_594-535del
NM_007300.4:c.441+249_594-535del
NR_027676.2:n.621+249_771-535del