Canonical Allele Identifier: CA645373198
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 431200
dbSNP Id: rs1135401837

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094828_43094832del , CM000679.2:g.43094828_43094832del GRCh38
NC_000017.10:g.41246845_41246849del , CM000679.1:g.41246845_41246849del GRCh37
NC_000017.9:g.38500371_38500375del NCBI36
NG_005905.2:g.123153_123157del , LRG_292:g.123153_123157del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.764_768del
ENST00000461574.2:c.700_704del ENSP00000417241.2:p.Thr234TyrfsTer2
ENST00000470026.6:c.700_704del ENSP00000419274.2:p.Thr234TyrfsTer2
ENST00000473961.6:c.574_578del ENSP00000420201.2:p.Thr192TyrfsTer2
ENST00000476777.6:c.697_701del ENSP00000417554.2:p.Thr233TyrfsTer2
ENST00000477152.6:c.622_626del ENSP00000419988.2:p.Thr208TyrfsTer2
ENST00000478531.6:c.697_701del ENSP00000420412.2:p.Thr233TyrfsTer2
ENST00000489037.2:c.622_626del ENSP00000420781.2:p.Thr208TyrfsTer2
ENST00000493919.6:c.559_563del ENSP00000418819.2:p.Thr187TyrfsTer2
ENST00000494123.6:c.700_704del ENSP00000419103.2:p.Thr234TyrfsTer2
ENST00000497488.2:c.-189_-185del ENSP00000418986.2:n.-189_-185del
ENST00000618469.2:c.700_704del ENSP00000478114.2:p.Thr234TyrfsTer2
ENST00000634433.2:c.577_581del ENSP00000489431.2:p.Thr193TyrfsTer2
ENST00000644379.2:c.700_704del ENSP00000496570.2:p.Thr234TyrfsTer2
ENST00000644555.2:c.559_563del ENSP00000494614.2:p.Thr187TyrfsTer2
ENST00000652672.2:c.559_563del ENSP00000498906.2:p.Thr187TyrfsTer2
ENST00000484087.6:c.577_581del ENSP00000419481.2:p.Thr193TyrfsTer2
ENST00000700182.1:c.619_623del ENSP00000514849.1:p.Thr207TyrfsTer2
ENST00000700183.1:c.*708_*712del ENSP00000514850.1:n.*708_*712del
ENST00000357654.9:c.700_704del MANE Select ENSP00000350283.3:p.Thr234TyrfsTer2
ENST00000471181.7:c.700_704del ENSP00000418960.2:p.Thr234TyrfsTer2
ENST00000642945.1:c.*574_*578del ENSP00000495897.1:n.*574_*578del
ENST00000652672.1:c.559_563del ENSP00000498906.1:p.Thr187TyrfsTer2
ENST00000352993.7:c.670+1015_670+1019del ENSP00000312236.5:n.670+1015_670+1019del
ENST00000354071.7:c.700_704del ENSP00000326002.7:p.Thr234TyrfsTer2
ENST00000357654.7:c.700_704del ENSP00000350283.3:p.Thr234TyrfsTer2
ENST00000412061.3:c.51_55del
ENST00000461221.5:c.*483_*487del ENSP00000418548.1:n.*483_*487del
ENST00000468300.5:c.700_704del ENSP00000417148.1:p.Thr234TyrfsTer2
ENST00000470026.5:c.700_704del ENSP00000419274.1:p.Thr234TyrfsTer2
ENST00000471181.6:c.700_704del ENSP00000418960.2:p.Thr234TyrfsTer2
ENST00000473961.5:c.297_301del
ENST00000477152.5:c.622_626del ENSP00000419988.1:p.Thr208TyrfsTer2
ENST00000478531.5:c.697_701del ENSP00000420412.1:p.Thr233TyrfsTer2
ENST00000484087.5:c.322_326del ENSP00000419481.1:p.Thr108TyrfsTer2
ENST00000487825.5:c.325_329del ENSP00000418212.1:p.Thr109TyrfsTer2
ENST00000491747.6:c.700_704del ENSP00000420705.2:p.Thr234TyrfsTer2
ENST00000492859.5:c.*636_*640del ENSP00000420253.1:n.*636_*640del
ENST00000493795.5:c.559_563del ENSP00000418775.1:p.Thr187TyrfsTer2
ENST00000493919.5:c.559_563del ENSP00000418819.1:p.Thr187TyrfsTer2
ENST00000494123.5:c.700_704del ENSP00000419103.1:p.Thr234TyrfsTer2
ENST00000497488.1:c.-189_-185del ENSP00000418986.1:n.-189_-185del
ENST00000586385.5:c.4+30351_4+30355del ENSP00000465818.1:n.4+30351_4+30355del
ENST00000591534.5:c.-43-20310_-43-20306del ENSP00000467329.1:n.-43-20310_-43-20306de...
ENST00000591849.5:c.-99+30440_-99+30444del ENSP00000465347.1:n.-99+30440_-99+30444de...
ENST00000634433.1:c.577_581del ENSP00000489431.1:p.Thr193TyrfsTer2
NM_007294.3:c.700_704del , LRG_292t1:c.700_704del NP_009225.1:p.Thr234TyrfsTer2
NM_007297.3:c.559_563del NP_009228.2:p.Thr187TyrfsTer2
NM_007298.3:c.700_704del NP_009229.2:p.Thr234TyrfsTer2
NM_007299.3:c.700_704del NP_009230.2:p.Thr234TyrfsTer2
NM_007300.3:c.700_704del NP_009231.2:p.Thr234TyrfsTer2
NR_027676.1:n.836_840del
NM_007294.4:c.700_704del MANE Select NP_009225.1:p.Thr234TyrfsTer2
NM_007297.4:c.559_563del NP_009228.2:p.Thr187TyrfsTer2
NM_007299.4:c.700_704del NP_009230.2:p.Thr234TyrfsTer2
NM_007300.4:c.700_704del NP_009231.2:p.Thr234TyrfsTer2
NR_027676.2:n.877_881del