Canonical Allele Identifier: CA919844475
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1567783726

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43082604_43082612del , CM000679.2:g.43082604_43082612del GRCh38
NC_000017.10:g.41234621_41234629del , CM000679.1:g.41234621_41234629del GRCh37
NC_000017.9:g.38488147_38488155del NCBI36
NG_005905.2:g.135373_135381del , LRG_292:g.135373_135381del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4186-36_4186-28del ENSP00000417241.2:n.4186-36_4186-28del
ENST00000470026.6:c.4186-36_4186-28del ENSP00000419274.2:n.4186-36_4186-28del
ENST00000473961.6:c.4060-36_4060-28del ENSP00000420201.2:n.4060-36_4060-28del
ENST00000476777.6:c.4183-39_4183-31del ENSP00000417554.2:n.4183-39_4183-31del
ENST00000477152.6:c.4108-36_4108-28del ENSP00000419988.2:n.4108-36_4108-28del
ENST00000478531.6:c.874-36_874-28del ENSP00000420412.2:n.874-36_874-28del
ENST00000489037.2:c.4108-36_4108-28del ENSP00000420781.2:n.4108-36_4108-28del
ENST00000493919.6:c.736-36_736-28del ENSP00000418819.2:n.736-36_736-28del
ENST00000494123.6:c.4186-36_4186-28del ENSP00000419103.2:n.4186-36_4186-28del
ENST00000497488.2:c.3298-36_3298-28del ENSP00000418986.2:n.3298-36_3298-28del
ENST00000618469.2:c.4186-36_4186-28del ENSP00000478114.2:n.4186-36_4186-28del
ENST00000634433.2:c.4063-36_4063-28del ENSP00000489431.2:n.4063-36_4063-28del
ENST00000644379.2:c.4186-36_4186-28del ENSP00000496570.2:n.4186-36_4186-28del
ENST00000644555.2:c.736-36_736-28del ENSP00000494614.2:n.736-36_736-28del
ENST00000652672.2:c.4045-36_4045-28del ENSP00000498906.2:n.4045-36_4045-28del
ENST00000484087.6:c.754-39_754-31del ENSP00000419481.2:n.754-39_754-31del
ENST00000700182.1:c.796-36_796-28del ENSP00000514849.1:n.796-36_796-28del
ENST00000357654.9:c.4186-36_4186-28del MANE Select ENSP00000350283.3:n.4186-36_4186-28del
ENST00000471181.7:c.4186-36_4186-28del ENSP00000418960.2:n.4186-36_4186-28del
ENST00000644379.1:c.507-36_507-28del
ENST00000352993.7:c.760-36_760-28del ENSP00000312236.5:n.760-36_760-28del
ENST00000357654.7:c.4186-36_4186-28del ENSP00000350283.3:n.4186-36_4186-28del
ENST00000461221.5:c.*3969-36_*3969-28del ENSP00000418548.1:n.*3969-36_*3969-28del
ENST00000461574.1:c.480-36_480-28del
ENST00000468300.5:c.877-36_877-28del ENSP00000417148.1:n.877-36_877-28del
ENST00000471181.6:c.4186-36_4186-28del ENSP00000418960.2:n.4186-36_4186-28del
ENST00000478531.5:c.874-36_874-28del ENSP00000420412.1:n.874-36_874-28del
ENST00000484087.5:c.499-36_499-28del ENSP00000419481.1:n.499-36_499-28del
ENST00000487825.5:c.502-36_502-28del ENSP00000418212.1:n.502-36_502-28del
ENST00000491747.6:c.877-36_877-28del ENSP00000420705.2:n.877-36_877-28del
ENST00000493795.5:c.4045-36_4045-28del ENSP00000418775.1:n.4045-36_4045-28del
ENST00000493919.5:c.736-36_736-28del ENSP00000418819.1:n.736-36_736-28del
ENST00000586385.5:c.5-18660_5-18652del ENSP00000465818.1:n.5-18660_5-18652del
ENST00000591534.5:c.-43-8090_-43-8082del ENSP00000467329.1:n.-43-8090_-43-8082del
ENST00000591849.5:c.-98-32421_-98-32413del ENSP00000465347.1:n.-98-32421_-98-32413de...
ENST00000621897.1:n.80-36_80-28del
NM_007294.3:c.4186-36_4186-28del , LRG_292t1:c.4186-36_4186-28del NP_009225.1:n.4186-36_4186-28del
NM_007297.3:c.4045-36_4045-28del NP_009228.2:n.4045-36_4045-28del
NM_007298.3:c.877-36_877-28del NP_009229.2:n.877-36_877-28del
NM_007299.3:c.877-36_877-28del NP_009230.2:n.877-36_877-28del
NM_007300.3:c.4186-36_4186-28del NP_009231.2:n.4186-36_4186-28del
NR_027676.1:n.4322-36_4322-28del
NM_007294.4:c.4186-36_4186-28del MANE Select NP_009225.1:n.4186-36_4186-28del
NM_007297.4:c.4045-36_4045-28del NP_009228.2:n.4045-36_4045-28del
NM_007299.4:c.877-36_877-28del NP_009230.2:n.877-36_877-28del
NM_007300.4:c.4186-36_4186-28del NP_009231.2:n.4186-36_4186-28del
NR_027676.2:n.4363-36_4363-28del