Canonical Allele Identifier: CA2522477307
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43067700_43067701del , CM000679.2:g.43067700_43067701del GRCh38
NC_000017.10:g.41219717_41219718del , CM000679.1:g.41219717_41219718del GRCh37
NC_000017.9:g.38473243_38473244del NCBI36
NG_005905.2:g.150284_150285del , LRG_292:g.150284_150285del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4984-5_4984-4del ENSP00000417241.2:n.4984-5_4984-4del
ENST00000470026.6:c.4987-5_4987-4del ENSP00000419274.2:n.4987-5_4987-4del
ENST00000473961.6:c.4861-5_4861-4del ENSP00000420201.2:n.4861-5_4861-4del
ENST00000476777.6:c.4981-5_4981-4del ENSP00000417554.2:n.4981-5_4981-4del
ENST00000477152.6:c.4909-5_4909-4del ENSP00000419988.2:n.4909-5_4909-4del
ENST00000478531.6:c.1675-5_1675-4del ENSP00000420412.2:n.1675-5_1675-4del
ENST00000489037.2:c.4909-5_4909-4del ENSP00000420781.2:n.4909-5_4909-4del
ENST00000493919.6:c.1537-5_1537-4del ENSP00000418819.2:n.1537-5_1537-4del
ENST00000494123.6:c.4987-5_4987-4del ENSP00000419103.2:n.4987-5_4987-4del
ENST00000497488.2:c.4099-5_4099-4del ENSP00000418986.2:n.4099-5_4099-4del
ENST00000618469.2:c.4987-5_4987-4del ENSP00000478114.2:n.4987-5_4987-4del
ENST00000634433.2:c.4864-5_4864-4del ENSP00000489431.2:n.4864-5_4864-4del
ENST00000644379.2:c.5053-5_5053-4del ENSP00000496570.2:n.5053-5_5053-4del
ENST00000644555.2:c.1537-5_1537-4del ENSP00000494614.2:n.1537-5_1537-4del
ENST00000652672.2:c.4846-5_4846-4del ENSP00000498906.2:n.4846-5_4846-4del
ENST00000484087.6:c.1549-5_1549-4del ENSP00000419481.2:n.1549-5_1549-4del
ENST00000357654.9:c.4987-5_4987-4del MANE Select ENSP00000350283.3:n.4987-5_4987-4del
ENST00000471181.7:c.5050-5_5050-4del ENSP00000418960.2:n.5050-5_5050-4del
ENST00000644379.1:c.1374-5_1374-4del
ENST00000352993.7:c.1561-5_1561-4del ENSP00000312236.5:n.1561-5_1561-4del
ENST00000357654.7:c.4987-5_4987-4del ENSP00000350283.3:n.4987-5_4987-4del
ENST00000461221.5:c.*4770-5_*4770-4del ENSP00000418548.1:n.*4770-5_*4770-4del
ENST00000468300.5:c.1675-5_1675-4del ENSP00000417148.1:n.1675-5_1675-4del
ENST00000471181.6:c.5050-5_5050-4del ENSP00000418960.2:n.5050-5_5050-4del
ENST00000472490.1:n.140-5_140-4del
ENST00000478531.5:c.1675-5_1675-4del ENSP00000420412.1:n.1675-5_1675-4del
ENST00000484087.5:c.1300-5_1300-4del ENSP00000419481.1:n.1300-5_1300-4del
ENST00000491747.6:c.1675-5_1675-4del ENSP00000420705.2:n.1675-5_1675-4del
ENST00000493795.5:c.4846-5_4846-4del ENSP00000418775.1:n.4846-5_4846-4del
ENST00000493919.5:c.1537-5_1537-4del ENSP00000418819.1:n.1537-5_1537-4del
ENST00000586385.5:c.5-3749_5-3748del ENSP00000465818.1:n.5-3749_5-3748del
ENST00000591534.5:c.460-5_460-4del ENSP00000467329.1:n.460-5_460-4del
ENST00000591849.5:c.-98-17510_-98-17509del ENSP00000465347.1:n.-98-17510_-98-17509del
NM_007294.3:c.4987-5_4987-4del , LRG_292t1:c.4987-5_4987-4del NP_009225.1:n.4987-5_4987-4del
NM_007297.3:c.4846-5_4846-4del NP_009228.2:n.4846-5_4846-4del
NM_007298.3:c.1675-5_1675-4del NP_009229.2:n.1675-5_1675-4del
NM_007299.3:c.1675-5_1675-4del NP_009230.2:n.1675-5_1675-4del
NM_007300.3:c.5050-5_5050-4del NP_009231.2:n.5050-5_5050-4del
NR_027676.1:n.5123-5_5123-4del
NM_007294.4:c.4987-5_4987-4del MANE Select NP_009225.1:n.4987-5_4987-4del
NM_007297.4:c.4846-5_4846-4del NP_009228.2:n.4846-5_4846-4del
NM_007299.4:c.1675-5_1675-4del NP_009230.2:n.1675-5_1675-4del
NM_007300.4:c.5050-5_5050-4del NP_009231.2:n.5050-5_5050-4del
NR_027676.2:n.5164-5_5164-4del