Canonical Allele Identifier: CA2557469013
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43064930_43064931insGCTCAC , CM000679.2:g.43064930_43064931insGCTCAC GRCh38
NC_000017.10:g.41216947_41216948insGCTCAC , CM000679.1:g.41216947_41216948insGCTCAC GRCh37
NC_000017.9:g.38470473_38470474insGCTCAC NCBI36
NG_005905.2:g.153053_153054insGTGAGC , LRG_292:g.153053_153054insGTGAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5072-980_5072-979insGTGAGC ENSP00000417241.2:n.5072-980_5072-979insGTGAGC
ENST00000470026.6:c.5075-980_5075-979insGTGAGC ENSP00000419274.2:n.5075-980_5075-979insGTGAGC
ENST00000473961.6:c.4949-980_4949-979insGTGAGC ENSP00000420201.2:n.4949-980_4949-979insGTGAGC
ENST00000476777.6:c.5069-980_5069-979insGTGAGC ENSP00000417554.2:n.5069-980_5069-979insGTGAGC
ENST00000477152.6:c.4997-980_4997-979insGTGAGC ENSP00000419988.2:n.4997-980_4997-979insGTGAGC
ENST00000478531.6:c.1763-980_1763-979insGTGAGC ENSP00000420412.2:n.1763-980_1763-979insGTGAGC
ENST00000489037.2:c.4997-980_4997-979insGTGAGC ENSP00000420781.2:n.4997-980_4997-979insGTGAGC
ENST00000493919.6:c.1625-980_1625-979insGTGAGC ENSP00000418819.2:n.1625-980_1625-979insGTGAGC
ENST00000494123.6:c.5075-980_5075-979insGTGAGC ENSP00000419103.2:n.5075-980_5075-979insGTGAGC
ENST00000497488.2:c.4187-980_4187-979insGTGAGC ENSP00000418986.2:n.4187-980_4187-979insGTGAGC
ENST00000618469.2:c.5075-980_5075-979insGTGAGC ENSP00000478114.2:n.5075-980_5075-979insGTGAGC
ENST00000634433.2:c.4952-980_4952-979insGTGAGC ENSP00000489431.2:n.4952-980_4952-979insGTGAGC
ENST00000644379.2:c.5141-980_5141-979insGTGAGC ENSP00000496570.2:n.5141-980_5141-979insGTGAGC
ENST00000644555.2:c.1625-980_1625-979insGTGAGC ENSP00000494614.2:n.1625-980_1625-979insGTGAGC
ENST00000652672.2:c.4934-980_4934-979insGTGAGC ENSP00000498906.2:n.4934-980_4934-979insGTGAGC
ENST00000484087.6:c.1637-980_1637-979insGTGAGC ENSP00000419481.2:n.1637-980_1637-979insGTGAGC
ENST00000357654.9:c.5075-980_5075-979insGTGAGC MANE Select ENSP00000350283.3:n.5075-980_5075-979insGTGAGC
ENST00000471181.7:c.5138-980_5138-979insGTGAGC ENSP00000418960.2:n.5138-980_5138-979insGTGAGC
ENST00000644379.1:c.1462-980_1462-979insGTGAGC
ENST00000352993.7:c.1649-980_1649-979insGTGAGC ENSP00000312236.5:n.1649-980_1649-979insGTGAGC
ENST00000357654.7:c.5075-980_5075-979insGTGAGC ENSP00000350283.3:n.5075-980_5075-979insGTGAGC
ENST00000461221.5:c.*4858-980_*4858-979insGTGAGC ENSP00000418548.1:n.*4858-980_*4858-979insGTGAGC
ENST00000468300.5:c.1763-980_1763-979insGTGAGC ENSP00000417148.1:n.1763-980_1763-979insGTGAGC
ENST00000471181.6:c.5138-980_5138-979insGTGAGC ENSP00000418960.2:n.5138-980_5138-979insGTGAGC
ENST00000478531.5:c.1763-980_1763-979insGTGAGC ENSP00000420412.1:n.1763-980_1763-979insGTGAGC
ENST00000484087.5:c.1388-980_1388-979insGTGAGC ENSP00000419481.1:n.1388-980_1388-979insGTGAGC
ENST00000491747.6:c.1763-980_1763-979insGTGAGC ENSP00000420705.2:n.1763-980_1763-979insGTGAGC
ENST00000493795.5:c.4934-980_4934-979insGTGAGC ENSP00000418775.1:n.4934-980_4934-979insGTGAGC
ENST00000493919.5:c.1625-980_1625-979insGTGAGC ENSP00000418819.1:n.1625-980_1625-979insGTGAGC
ENST00000586385.5:c.5-980_5-979insGTGAGC ENSP00000465818.1:n.5-980_5-979insGTGAGC
ENST00000591534.5:c.548-980_548-979insGTGAGC ENSP00000467329.1:n.548-980_548-979insGTGAGC
ENST00000591849.5:c.-98-14741_-98-14740insGTGAGC ENSP00000465347.1:n.-98-14741_-98-14740insGTGAGC
NM_007294.3:c.5075-980_5075-979insGTGAGC , LRG_292t1:c.5075-980_5075-979insGTGAGC NP_009225.1:n.5075-980_5075-979insGTGAGC
NM_007297.3:c.4934-980_4934-979insGTGAGC NP_009228.2:n.4934-980_4934-979insGTGAGC
NM_007298.3:c.1763-980_1763-979insGTGAGC NP_009229.2:n.1763-980_1763-979insGTGAGC
NM_007299.3:c.1763-980_1763-979insGTGAGC NP_009230.2:n.1763-980_1763-979insGTGAGC
NM_007300.3:c.5138-980_5138-979insGTGAGC NP_009231.2:n.5138-980_5138-979insGTGAGC
NR_027676.1:n.5211-980_5211-979insGTGAGC
NM_007294.4:c.5075-980_5075-979insGTGAGC MANE Select NP_009225.1:n.5075-980_5075-979insGTGAGC
NM_007297.4:c.4934-980_4934-979insGTGAGC NP_009228.2:n.4934-980_4934-979insGTGAGC
NM_007299.4:c.1763-980_1763-979insGTGAGC NP_009230.2:n.1763-980_1763-979insGTGAGC
NM_007300.4:c.5138-980_5138-979insGTGAGC NP_009231.2:n.5138-980_5138-979insGTGAGC
NR_027676.2:n.5252-980_5252-979insGTGAGC