Canonical Allele Identifier: CA2260775575
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43076640_43076645delinsCTACTT , CM000679.2:g.43076640_43076645delinsCTACTT GRCh38
NC_000017.10:g.41228657_41228662delinsCTACTT , CM000679.1:g.41228657_41228662delinsCTACTT GRCh37
NC_000017.9:g.38482183_38482188delinsCTACTT NCBI36
NG_005905.2:g.141339_141344delinsAAGTAG , LRG_292:g.141339_141344delinsAAGTAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4358-34_4358-29delinsAAGTAG ENSP00000417241.2:n.4358-34_4358-29delinsAAGTAG
ENST00000470026.6:c.4358-31_4358-26delinsAAGTAG ENSP00000419274.2:n.4358-31_4358-26delinsAAGTAG
ENST00000473961.6:c.4232-31_4232-26delinsAAGTAG ENSP00000420201.2:n.4232-31_4232-26delinsAAGTAG
ENST00000476777.6:c.4352-31_4352-26delinsAAGTAG ENSP00000417554.2:n.4352-31_4352-26delinsAAGTAG
ENST00000477152.6:c.4280-31_4280-26delinsAAGTAG ENSP00000419988.2:n.4280-31_4280-26delinsAAGTAG
ENST00000478531.6:c.1046-31_1046-26delinsAAGTAG ENSP00000420412.2:n.1046-31_1046-26delinsAAGTAG
ENST00000489037.2:c.4280-31_4280-26delinsAAGTAG ENSP00000420781.2:n.4280-31_4280-26delinsAAGTAG
ENST00000493919.6:c.908-31_908-26delinsAAGTAG ENSP00000418819.2:n.908-31_908-26delinsAAGTAG
ENST00000494123.6:c.4358-31_4358-26delinsAAGTAG ENSP00000419103.2:n.4358-31_4358-26delinsAAGTAG
ENST00000497488.2:c.3470-31_3470-26delinsAAGTAG ENSP00000418986.2:n.3470-31_3470-26delinsAAGTAG
ENST00000618469.2:c.4358-31_4358-26delinsAAGTAG ENSP00000478114.2:n.4358-31_4358-26delinsAAGTAG
ENST00000634433.2:c.4235-31_4235-26delinsAAGTAG ENSP00000489431.2:n.4235-31_4235-26delinsAAGTAG
ENST00000644379.2:c.4424-31_4424-26delinsAAGTAG ENSP00000496570.2:n.4424-31_4424-26delinsAAGTAG
ENST00000644555.2:c.908-31_908-26delinsAAGTAG ENSP00000494614.2:n.908-31_908-26delinsAAGTAG
ENST00000652672.2:c.4217-31_4217-26delinsAAGTAG ENSP00000498906.2:n.4217-31_4217-26delinsAAGTAG
ENST00000484087.6:c.923-34_923-29delinsAAGTAG ENSP00000419481.2:n.923-34_923-29delinsAAGTAG
ENST00000700182.1:c.968-34_968-29delinsAAGTAG ENSP00000514849.1:n.968-34_968-29delinsAAGTAG
ENST00000357654.9:c.4358-31_4358-26delinsAAGTAG MANE Select ENSP00000350283.3:n.4358-31_4358-26delinsAAGTAG
ENST00000471181.7:c.4424-34_4424-29delinsAAGTAG ENSP00000418960.2:n.4424-34_4424-29delinsAAGTAG
ENST00000644379.1:c.745-31_745-26delinsAAGTAG
ENST00000352993.7:c.932-31_932-26delinsAAGTAG ENSP00000312236.5:n.932-31_932-26delinsAAGTAG
ENST00000357654.7:c.4358-31_4358-26delinsAAGTAG ENSP00000350283.3:n.4358-31_4358-26delinsAAGTAG
ENST00000461221.5:c.*4141-31_*4141-26delinsAAGTAG ENSP00000418548.1:n.*4141-31_*4141-26delinsAAGTAG
ENST00000461574.1:c.652-34_652-29delinsAAGTAG
ENST00000468300.5:c.1049-34_1049-29delinsAAGTAG ENSP00000417148.1:n.1049-34_1049-29delinsAAGTAG
ENST00000471181.6:c.4424-34_4424-29delinsAAGTAG ENSP00000418960.2:n.4424-34_4424-29delinsAAGTAG
ENST00000478531.5:c.1046-31_1046-26delinsAAGTAG ENSP00000420412.1:n.1046-31_1046-26delinsAAGTAG
ENST00000484087.5:c.671-31_671-26delinsAAGTAG ENSP00000419481.1:n.671-31_671-26delinsAAGTAG
ENST00000487825.5:c.674-31_674-26delinsAAGTAG ENSP00000418212.1:n.674-31_674-26delinsAAGTAG
ENST00000491747.6:c.1049-34_1049-29delinsAAGTAG ENSP00000420705.2:n.1049-34_1049-29delinsAAGTAG
ENST00000493795.5:c.4217-31_4217-26delinsAAGTAG ENSP00000418775.1:n.4217-31_4217-26delinsAAGTAG
ENST00000493919.5:c.908-31_908-26delinsAAGTAG ENSP00000418819.1:n.908-31_908-26delinsAAGTAG
ENST00000586385.5:c.5-12694_5-12689delinsAAGTAG ENSP00000465818.1:n.5-12694_5-12689delinsAAGTAG
ENST00000591534.5:c.-43-2124_-43-2119delinsAAGTAG ENSP00000467329.1:n.-43-2124_-43-2119delinsAAGTAG
ENST00000591849.5:c.-98-26455_-98-26450delinsAAGTAG ENSP00000465347.1:n.-98-26455_-98-26450delinsAAGTAG
ENST00000621897.1:n.252-34_252-29delinsAAGTAG
NM_007294.3:c.4358-31_4358-26delinsAAGTAG , LRG_292t1:c.4358-31_4358-26delinsAAGTAG NP_009225.1:n.4358-31_4358-26delinsAAGTAG
NM_007297.3:c.4217-31_4217-26delinsAAGTAG NP_009228.2:n.4217-31_4217-26delinsAAGTAG
NM_007298.3:c.1049-34_1049-29delinsAAGTAG NP_009229.2:n.1049-34_1049-29delinsAAGTAG
NM_007299.3:c.1049-34_1049-29delinsAAGTAG NP_009230.2:n.1049-34_1049-29delinsAAGTAG
NM_007300.3:c.4424-34_4424-29delinsAAGTAG NP_009231.2:n.4424-34_4424-29delinsAAGTAG
NR_027676.1:n.4494-31_4494-26delinsAAGTAG
NM_007294.4:c.4358-31_4358-26delinsAAGTAG MANE Select NP_009225.1:n.4358-31_4358-26delinsAAGTAG
NM_007297.4:c.4217-31_4217-26delinsAAGTAG NP_009228.2:n.4217-31_4217-26delinsAAGTAG
NM_007299.4:c.1049-34_1049-29delinsAAGTAG NP_009230.2:n.1049-34_1049-29delinsAAGTAG
NM_007300.4:c.4424-34_4424-29delinsAAGTAG NP_009231.2:n.4424-34_4424-29delinsAAGTAG
NR_027676.2:n.4535-31_4535-26delinsAAGTAG