Canonical Allele Identifier: CA2733673776
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1446353355

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43067855_43067856insTTTTAAAAA , CM000679.2:g.43067855_43067856insTTTTAAAAA GRCh38
NC_000017.10:g.41219872_41219873insTTTTAAAAA , CM000679.1:g.41219872_41219873insTTTTAAAAA GRCh37
NC_000017.9:g.38473398_38473399insTTTTAAAAA NCBI36
NG_005905.2:g.150128_150129insTTTTTAAAA , LRG_292:g.150128_150129insTTTTTAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4984-161_4984-160insTTTTTAAAA ENSP00000417241.2:n.4984-161_4984-160insTTTTTAAAA
ENST00000470026.6:c.4987-161_4987-160insTTTTTAAAA ENSP00000419274.2:n.4987-161_4987-160insTTTTTAAAA
ENST00000473961.6:c.4861-161_4861-160insTTTTTAAAA ENSP00000420201.2:n.4861-161_4861-160insTTTTTAAAA
ENST00000476777.6:c.4981-161_4981-160insTTTTTAAAA ENSP00000417554.2:n.4981-161_4981-160insTTTTTAAAA
ENST00000477152.6:c.4909-161_4909-160insTTTTTAAAA ENSP00000419988.2:n.4909-161_4909-160insTTTTTAAAA
ENST00000478531.6:c.1675-161_1675-160insTTTTTAAAA ENSP00000420412.2:n.1675-161_1675-160insTTTTTAAAA
ENST00000489037.2:c.4909-161_4909-160insTTTTTAAAA ENSP00000420781.2:n.4909-161_4909-160insTTTTTAAAA
ENST00000493919.6:c.1537-161_1537-160insTTTTTAAAA ENSP00000418819.2:n.1537-161_1537-160insTTTTTAAAA
ENST00000494123.6:c.4987-161_4987-160insTTTTTAAAA ENSP00000419103.2:n.4987-161_4987-160insTTTTTAAAA
ENST00000497488.2:c.4099-161_4099-160insTTTTTAAAA ENSP00000418986.2:n.4099-161_4099-160insTTTTTAAAA
ENST00000618469.2:c.4987-161_4987-160insTTTTTAAAA ENSP00000478114.2:n.4987-161_4987-160insTTTTTAAAA
ENST00000634433.2:c.4864-161_4864-160insTTTTTAAAA ENSP00000489431.2:n.4864-161_4864-160insTTTTTAAAA
ENST00000644379.2:c.5053-161_5053-160insTTTTTAAAA ENSP00000496570.2:n.5053-161_5053-160insTTTTTAAAA
ENST00000644555.2:c.1537-161_1537-160insTTTTTAAAA ENSP00000494614.2:n.1537-161_1537-160insTTTTTAAAA
ENST00000652672.2:c.4846-161_4846-160insTTTTTAAAA ENSP00000498906.2:n.4846-161_4846-160insTTTTTAAAA
ENST00000484087.6:c.1549-161_1549-160insTTTTTAAAA ENSP00000419481.2:n.1549-161_1549-160insTTTTTAAAA
ENST00000357654.9:c.4987-161_4987-160insTTTTTAAAA MANE Select ENSP00000350283.3:n.4987-161_4987-160insTTTTTAAAA
ENST00000471181.7:c.5050-161_5050-160insTTTTTAAAA ENSP00000418960.2:n.5050-161_5050-160insTTTTTAAAA
ENST00000644379.1:c.1374-161_1374-160insTTTTTAAAA
ENST00000352993.7:c.1561-161_1561-160insTTTTTAAAA ENSP00000312236.5:n.1561-161_1561-160insTTTTTAAAA
ENST00000357654.7:c.4987-161_4987-160insTTTTTAAAA ENSP00000350283.3:n.4987-161_4987-160insTTTTTAAAA
ENST00000461221.5:c.*4770-161_*4770-160insTTTTTAAAA ENSP00000418548.1:n.*4770-161_*4770-160insTTTTTAAAA
ENST00000468300.5:c.1675-161_1675-160insTTTTTAAAA ENSP00000417148.1:n.1675-161_1675-160insTTTTTAAAA
ENST00000471181.6:c.5050-161_5050-160insTTTTTAAAA ENSP00000418960.2:n.5050-161_5050-160insTTTTTAAAA
ENST00000472490.1:n.140-161_140-160insTTTTTAAAA
ENST00000478531.5:c.1675-161_1675-160insTTTTTAAAA ENSP00000420412.1:n.1675-161_1675-160insTTTTTAAAA
ENST00000484087.5:c.1300-161_1300-160insTTTTTAAAA ENSP00000419481.1:n.1300-161_1300-160insTTTTTAAAA
ENST00000491747.6:c.1675-161_1675-160insTTTTTAAAA ENSP00000420705.2:n.1675-161_1675-160insTTTTTAAAA
ENST00000493795.5:c.4846-161_4846-160insTTTTTAAAA ENSP00000418775.1:n.4846-161_4846-160insTTTTTAAAA
ENST00000493919.5:c.1537-161_1537-160insTTTTTAAAA ENSP00000418819.1:n.1537-161_1537-160insTTTTTAAAA
ENST00000586385.5:c.5-3905_5-3904insTTTTTAAAA ENSP00000465818.1:n.5-3905_5-3904insTTTTTAAAA
ENST00000591534.5:c.460-161_460-160insTTTTTAAAA ENSP00000467329.1:n.460-161_460-160insTTTTTAAAA
ENST00000591849.5:c.-98-17666_-98-17665insTTTTTAAAA ENSP00000465347.1:n.-98-17666_-98-17665insTTTTTAAAA
NM_007294.3:c.4987-161_4987-160insTTTTTAAAA , LRG_292t1:c.4987-161_4987-160insTTTTTAAAA NP_009225.1:n.4987-161_4987-160insTTTTTAAAA
NM_007297.3:c.4846-161_4846-160insTTTTTAAAA NP_009228.2:n.4846-161_4846-160insTTTTTAAAA
NM_007298.3:c.1675-161_1675-160insTTTTTAAAA NP_009229.2:n.1675-161_1675-160insTTTTTAAAA
NM_007299.3:c.1675-161_1675-160insTTTTTAAAA NP_009230.2:n.1675-161_1675-160insTTTTTAAAA
NM_007300.3:c.5050-161_5050-160insTTTTTAAAA NP_009231.2:n.5050-161_5050-160insTTTTTAAAA
NR_027676.1:n.5123-161_5123-160insTTTTTAAAA
NM_007294.4:c.4987-161_4987-160insTTTTTAAAA MANE Select NP_009225.1:n.4987-161_4987-160insTTTTTAAAA
NM_007297.4:c.4846-161_4846-160insTTTTTAAAA NP_009228.2:n.4846-161_4846-160insTTTTTAAAA
NM_007299.4:c.1675-161_1675-160insTTTTTAAAA NP_009230.2:n.1675-161_1675-160insTTTTTAAAA
NM_007300.4:c.5050-161_5050-160insTTTTTAAAA NP_009231.2:n.5050-161_5050-160insTTTTTAAAA
NR_027676.2:n.5164-161_5164-160insTTTTTAAAA