Canonical Allele Identifier: CA919844489
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1567788984

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091449_43091450del , CM000679.2:g.43091449_43091450del GRCh38
NC_000017.10:g.41243466_41243467del , CM000679.1:g.41243466_41243467del GRCh37
NC_000017.9:g.38496992_38496993del NCBI36
NG_005905.2:g.126534_126535del , LRG_292:g.126534_126535del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4145_4146del
ENST00000461574.2:c.4081_4082del ENSP00000417241.2:p.Met1361GlyfsTer6
ENST00000470026.6:c.4081_4082del ENSP00000419274.2:p.Met1361GlyfsTer6
ENST00000473961.6:c.3955_3956del ENSP00000420201.2:p.Met1319GlyfsTer6
ENST00000476777.6:c.4078_4079del ENSP00000417554.2:p.Met1360GlyfsTer6
ENST00000477152.6:c.4003_4004del ENSP00000419988.2:p.Met1335GlyfsTer6
ENST00000478531.6:c.785-418_785-417del ENSP00000420412.2:n.785-418_785-417del
ENST00000489037.2:c.4003_4004del ENSP00000420781.2:p.Met1335GlyfsTer6
ENST00000493919.6:c.647-418_647-417del ENSP00000418819.2:n.647-418_647-417del
ENST00000494123.6:c.4081_4082del ENSP00000419103.2:p.Met1361GlyfsTer6
ENST00000497488.2:c.3193_3194del ENSP00000418986.2:p.Met1065GlyfsTer6
ENST00000618469.2:c.4081_4082del ENSP00000478114.2:p.Met1361GlyfsTer6
ENST00000634433.2:c.3958_3959del ENSP00000489431.2:p.Met1320GlyfsTer6
ENST00000644379.2:c.4081_4082del ENSP00000496570.2:p.Met1361GlyfsTer6
ENST00000644555.2:c.647-418_647-417del ENSP00000494614.2:n.647-418_647-417del
ENST00000652672.2:c.3940_3941del ENSP00000498906.2:p.Met1314GlyfsTer6
ENST00000484087.6:c.665-418_665-417del ENSP00000419481.2:n.665-418_665-417del
ENST00000700182.1:c.707-418_707-417del ENSP00000514849.1:n.707-418_707-417del
ENST00000357654.9:c.4081_4082del MANE Select ENSP00000350283.3:p.Met1361GlyfsTer6
ENST00000471181.7:c.4081_4082del ENSP00000418960.2:p.Met1361GlyfsTer6
ENST00000644379.1:c.402_403del
ENST00000352993.7:c.671-418_671-417del ENSP00000312236.5:n.671-418_671-417del
ENST00000354071.7:c.4081_4082del ENSP00000326002.7:p.Met1361GlyfsTer19
ENST00000357654.7:c.4081_4082del ENSP00000350283.3:p.Met1361GlyfsTer6
ENST00000461221.5:c.*3864_*3865del ENSP00000418548.1:n.*3864_*3865del
ENST00000461574.1:c.375_376del
ENST00000468300.5:c.788-418_788-417del ENSP00000417148.1:n.788-418_788-417del
ENST00000471181.6:c.4081_4082del ENSP00000418960.2:p.Met1361GlyfsTer6
ENST00000478531.5:c.785-418_785-417del ENSP00000420412.1:n.785-418_785-417del
ENST00000484087.5:c.410-418_410-417del ENSP00000419481.1:n.410-418_410-417del
ENST00000487825.5:c.413-418_413-417del ENSP00000418212.1:n.413-418_413-417del
ENST00000491747.6:c.788-418_788-417del ENSP00000420705.2:n.788-418_788-417del
ENST00000493795.5:c.3940_3941del ENSP00000418775.1:p.Met1314GlyfsTer6
ENST00000493919.5:c.647-418_647-417del ENSP00000418819.1:n.647-418_647-417del
ENST00000586385.5:c.5-27499_5-27498del ENSP00000465818.1:n.5-27499_5-27498del
ENST00000591534.5:c.-43-16929_-43-16928del ENSP00000467329.1:n.-43-16929_-43-16928del
ENST00000591849.5:c.-99+33821_-99+33822del ENSP00000465347.1:n.-99+33821_-99+33822del
NM_007294.3:c.4081_4082del , LRG_292t1:c.4081_4082del NP_009225.1:p.Met1361GlyfsTer6
NM_007297.3:c.3940_3941del NP_009228.2:p.Met1314GlyfsTer6
NM_007298.3:c.788-418_788-417del NP_009229.2:n.788-418_788-417del
NM_007299.3:c.788-418_788-417del NP_009230.2:n.788-418_788-417del
NM_007300.3:c.4081_4082del NP_009231.2:p.Met1361GlyfsTer6
NR_027676.1:n.4217_4218del
NM_007294.4:c.4081_4082del MANE Select NP_009225.1:p.Met1361GlyfsTer6
NM_007297.4:c.3940_3941del NP_009228.2:p.Met1314GlyfsTer6
NM_007299.4:c.788-418_788-417del NP_009230.2:n.788-418_788-417del
NM_007300.4:c.4081_4082del NP_009231.2:p.Met1361GlyfsTer6
NR_027676.2:n.4258_4259del