Canonical Allele Identifier: CA919844491
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1567789155

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091483_43091484insT , CM000679.2:g.43091483_43091484insT GRCh38
NC_000017.10:g.41243500_41243501insT , CM000679.1:g.41243500_41243501insT GRCh37
NC_000017.9:g.38497026_38497027insT NCBI36
NG_005905.2:g.126500_126501insA , LRG_292:g.126500_126501insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4111_4112insA
ENST00000461574.2:c.4047_4048insA ENSP00000417241.2:p.Gly1350ArgfsTer6
ENST00000470026.6:c.4047_4048insA ENSP00000419274.2:p.Gly1350ArgfsTer6
ENST00000473961.6:c.3921_3922insA ENSP00000420201.2:p.Gly1308ArgfsTer6
ENST00000476777.6:c.4044_4045insA ENSP00000417554.2:p.Gly1349ArgfsTer6
ENST00000477152.6:c.3969_3970insA ENSP00000419988.2:p.Gly1324ArgfsTer6
ENST00000478531.6:c.785-452_785-451insA ENSP00000420412.2:n.785-452_785-451insA
ENST00000489037.2:c.3969_3970insA ENSP00000420781.2:p.Gly1324ArgfsTer6
ENST00000493919.6:c.647-452_647-451insA ENSP00000418819.2:n.647-452_647-451insA
ENST00000494123.6:c.4047_4048insA ENSP00000419103.2:p.Gly1350ArgfsTer6
ENST00000497488.2:c.3159_3160insA ENSP00000418986.2:p.Gly1054ArgfsTer6
ENST00000618469.2:c.4047_4048insA ENSP00000478114.2:p.Gly1350ArgfsTer6
ENST00000634433.2:c.3924_3925insA ENSP00000489431.2:p.Gly1309ArgfsTer6
ENST00000644379.2:c.4047_4048insA ENSP00000496570.2:p.Gly1350ArgfsTer6
ENST00000644555.2:c.647-452_647-451insA ENSP00000494614.2:n.647-452_647-451insA
ENST00000652672.2:c.3906_3907insA ENSP00000498906.2:p.Gly1303ArgfsTer6
ENST00000484087.6:c.665-452_665-451insA ENSP00000419481.2:n.665-452_665-451insA
ENST00000700182.1:c.707-452_707-451insA ENSP00000514849.1:n.707-452_707-451insA
ENST00000357654.9:c.4047_4048insA MANE Select ENSP00000350283.3:p.Gly1350ArgfsTer6
ENST00000471181.7:c.4047_4048insA ENSP00000418960.2:p.Gly1350ArgfsTer6
ENST00000644379.1:c.368_369insA
ENST00000352993.7:c.671-452_671-451insA ENSP00000312236.5:n.671-452_671-451insA
ENST00000354071.7:c.4047_4048insA ENSP00000326002.7:p.Gly1350ArgfsTer6
ENST00000357654.7:c.4047_4048insA ENSP00000350283.3:p.Gly1350ArgfsTer6
ENST00000461221.5:c.*3830_*3831insA ENSP00000418548.1:n.*3830_*3831insA
ENST00000461574.1:c.341_342insA
ENST00000468300.5:c.788-452_788-451insA ENSP00000417148.1:n.788-452_788-451insA
ENST00000471181.6:c.4047_4048insA ENSP00000418960.2:p.Gly1350ArgfsTer6
ENST00000478531.5:c.785-452_785-451insA ENSP00000420412.1:n.785-452_785-451insA
ENST00000484087.5:c.410-452_410-451insA ENSP00000419481.1:n.410-452_410-451insA
ENST00000487825.5:c.413-452_413-451insA ENSP00000418212.1:n.413-452_413-451insA
ENST00000491747.6:c.788-452_788-451insA ENSP00000420705.2:n.788-452_788-451insA
ENST00000493795.5:c.3906_3907insA ENSP00000418775.1:p.Gly1303ArgfsTer6
ENST00000493919.5:c.647-452_647-451insA ENSP00000418819.1:n.647-452_647-451insA
ENST00000586385.5:c.5-27533_5-27532insA ENSP00000465818.1:n.5-27533_5-27532insA
ENST00000591534.5:c.-43-16963_-43-16962insA ENSP00000467329.1:n.-43-16963_-43-16962insA
ENST00000591849.5:c.-99+33787_-99+33788insA ENSP00000465347.1:n.-99+33787_-99+33788insA
NM_007294.3:c.4047_4048insA , LRG_292t1:c.4047_4048insA NP_009225.1:p.Gly1350ArgfsTer6
NM_007297.3:c.3906_3907insA NP_009228.2:p.Gly1303ArgfsTer6
NM_007298.3:c.788-452_788-451insA NP_009229.2:n.788-452_788-451insA
NM_007299.3:c.788-452_788-451insA NP_009230.2:n.788-452_788-451insA
NM_007300.3:c.4047_4048insA NP_009231.2:p.Gly1350ArgfsTer6
NR_027676.1:n.4183_4184insA
NM_007294.4:c.4047_4048insA MANE Select NP_009225.1:p.Gly1350ArgfsTer6
NM_007297.4:c.3906_3907insA NP_009228.2:p.Gly1303ArgfsTer6
NM_007299.4:c.788-452_788-451insA NP_009230.2:n.788-452_788-451insA
NM_007300.4:c.4047_4048insA NP_009231.2:p.Gly1350ArgfsTer6
NR_027676.2:n.4224_4225insA