Canonical Allele Identifier: CA2260781876
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091370_43091371delinsAG , CM000679.2:g.43091370_43091371delinsAG GRCh38
NC_000017.10:g.41243387_41243388delinsAG , CM000679.1:g.41243387_41243388delinsAG GRCh37
NC_000017.9:g.38496913_38496914delinsAG NCBI36
NG_005905.2:g.126613_126614delinsCT , LRG_292:g.126613_126614delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4224_4225delinsCT
ENST00000461574.2:c.4096+64_4096+65delinsCT ENSP00000417241.2:n.4096+64_4096+65delinsCT
ENST00000470026.6:c.4096+64_4096+65delinsCT ENSP00000419274.2:n.4096+64_4096+65delinsCT
ENST00000473961.6:c.3970+64_3970+65delinsCT ENSP00000420201.2:n.3970+64_3970+65delinsCT
ENST00000476777.6:c.4093+64_4093+65delinsCT ENSP00000417554.2:n.4093+64_4093+65delinsCT
ENST00000477152.6:c.4018+64_4018+65delinsCT ENSP00000419988.2:n.4018+64_4018+65delinsCT
ENST00000478531.6:c.785-339_785-338delinsCT ENSP00000420412.2:n.785-339_785-338delinsCT
ENST00000489037.2:c.4018+64_4018+65delinsCT ENSP00000420781.2:n.4018+64_4018+65delinsCT
ENST00000493919.6:c.647-339_647-338delinsCT ENSP00000418819.2:n.647-339_647-338delinsCT
ENST00000494123.6:c.4096+64_4096+65delinsCT ENSP00000419103.2:n.4096+64_4096+65delinsCT
ENST00000497488.2:c.3208+64_3208+65delinsCT ENSP00000418986.2:n.3208+64_3208+65delinsCT
ENST00000618469.2:c.4096+64_4096+65delinsCT ENSP00000478114.2:n.4096+64_4096+65delinsCT
ENST00000634433.2:c.3973+64_3973+65delinsCT ENSP00000489431.2:n.3973+64_3973+65delinsCT
ENST00000644379.2:c.4096+64_4096+65delinsCT ENSP00000496570.2:n.4096+64_4096+65delinsCT
ENST00000644555.2:c.647-339_647-338delinsCT ENSP00000494614.2:n.647-339_647-338delinsCT
ENST00000652672.2:c.3955+64_3955+65delinsCT ENSP00000498906.2:n.3955+64_3955+65delinsCT
ENST00000484087.6:c.665-339_665-338delinsCT ENSP00000419481.2:n.665-339_665-338delinsCT
ENST00000700182.1:c.707-339_707-338delinsCT ENSP00000514849.1:n.707-339_707-338delinsCT
ENST00000357654.9:c.4096+64_4096+65delinsCT MANE Select ENSP00000350283.3:n.4096+64_4096+65delinsCT
ENST00000471181.7:c.4096+64_4096+65delinsCT ENSP00000418960.2:n.4096+64_4096+65delinsCT
ENST00000644379.1:c.417+64_417+65delinsCT
ENST00000352993.7:c.671-339_671-338delinsCT ENSP00000312236.5:n.671-339_671-338delinsCT
ENST00000354071.7:c.4160_4161delinsCT ENSP00000326002.7:p.Ala1387=
ENST00000357654.7:c.4096+64_4096+65delinsCT ENSP00000350283.3:n.4096+64_4096+65delinsCT
ENST00000461221.5:c.*3879+64_*3879+65delinsCT ENSP00000418548.1:n.*3879+64_*3879+65delinsCT
ENST00000461574.1:c.390+64_390+65delinsCT
ENST00000468300.5:c.788-339_788-338delinsCT ENSP00000417148.1:n.788-339_788-338delinsCT
ENST00000471181.6:c.4096+64_4096+65delinsCT ENSP00000418960.2:n.4096+64_4096+65delinsCT
ENST00000478531.5:c.785-339_785-338delinsCT ENSP00000420412.1:n.785-339_785-338delinsCT
ENST00000484087.5:c.410-339_410-338delinsCT ENSP00000419481.1:n.410-339_410-338delinsCT
ENST00000487825.5:c.413-339_413-338delinsCT ENSP00000418212.1:n.413-339_413-338delinsCT
ENST00000491747.6:c.788-339_788-338delinsCT ENSP00000420705.2:n.788-339_788-338delinsCT
ENST00000493795.5:c.3955+64_3955+65delinsCT ENSP00000418775.1:n.3955+64_3955+65delinsCT
ENST00000493919.5:c.647-339_647-338delinsCT ENSP00000418819.1:n.647-339_647-338delinsCT
ENST00000586385.5:c.5-27420_5-27419delinsCT ENSP00000465818.1:n.5-27420_5-27419delinsCT
ENST00000591534.5:c.-43-16850_-43-16849delinsCT ENSP00000467329.1:n.-43-16850_-43-16849delinsCT
ENST00000591849.5:c.-99+33900_-99+33901delinsCT ENSP00000465347.1:n.-99+33900_-99+33901delinsCT
NM_007294.3:c.4096+64_4096+65delinsCT , LRG_292t1:c.4096+64_4096+65delinsCT NP_009225.1:n.4096+64_4096+65delinsCT
NM_007297.3:c.3955+64_3955+65delinsCT NP_009228.2:n.3955+64_3955+65delinsCT
NM_007298.3:c.788-339_788-338delinsCT NP_009229.2:n.788-339_788-338delinsCT
NM_007299.3:c.788-339_788-338delinsCT NP_009230.2:n.788-339_788-338delinsCT
NM_007300.3:c.4096+64_4096+65delinsCT NP_009231.2:n.4096+64_4096+65delinsCT
NR_027676.1:n.4232+64_4232+65delinsCT
NM_007294.4:c.4096+64_4096+65delinsCT MANE Select NP_009225.1:n.4096+64_4096+65delinsCT
NM_007297.4:c.3955+64_3955+65delinsCT NP_009228.2:n.3955+64_3955+65delinsCT
NM_007299.4:c.788-339_788-338delinsCT NP_009230.2:n.788-339_788-338delinsCT
NM_007300.4:c.4096+64_4096+65delinsCT NP_009231.2:n.4096+64_4096+65delinsCT
NR_027676.2:n.4273+64_4273+65delinsCT