Canonical Allele Identifier: CA2638062159
Gene: BRCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43067804_43067805insG , CM000679.2:g.43067804_43067805insG GRCh38
NC_000017.10:g.41219821_41219822insG , CM000679.1:g.41219821_41219822insG GRCh37
NC_000017.9:g.38473347_38473348insG NCBI36
NG_005905.2:g.150179_150180insC , LRG_292:g.150179_150180insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4984-110_4984-109insC ENSP00000417241.2:n.4984-110_4984-109insC
ENST00000470026.6:c.4987-110_4987-109insC ENSP00000419274.2:n.4987-110_4987-109insC
ENST00000473961.6:c.4861-110_4861-109insC ENSP00000420201.2:n.4861-110_4861-109insC
ENST00000476777.6:c.4981-110_4981-109insC ENSP00000417554.2:n.4981-110_4981-109insC
ENST00000477152.6:c.4909-110_4909-109insC ENSP00000419988.2:n.4909-110_4909-109insC
ENST00000478531.6:c.1675-110_1675-109insC ENSP00000420412.2:n.1675-110_1675-109insC
ENST00000489037.2:c.4909-110_4909-109insC ENSP00000420781.2:n.4909-110_4909-109insC
ENST00000493919.6:c.1537-110_1537-109insC ENSP00000418819.2:n.1537-110_1537-109insC
ENST00000494123.6:c.4987-110_4987-109insC ENSP00000419103.2:n.4987-110_4987-109insC
ENST00000497488.2:c.4099-110_4099-109insC ENSP00000418986.2:n.4099-110_4099-109insC
ENST00000618469.2:c.4987-110_4987-109insC ENSP00000478114.2:n.4987-110_4987-109insC
ENST00000634433.2:c.4864-110_4864-109insC ENSP00000489431.2:n.4864-110_4864-109insC
ENST00000644379.2:c.5053-110_5053-109insC ENSP00000496570.2:n.5053-110_5053-109insC
ENST00000644555.2:c.1537-110_1537-109insC ENSP00000494614.2:n.1537-110_1537-109insC
ENST00000652672.2:c.4846-110_4846-109insC ENSP00000498906.2:n.4846-110_4846-109insC
ENST00000484087.6:c.1549-110_1549-109insC ENSP00000419481.2:n.1549-110_1549-109insC
ENST00000357654.9:c.4987-110_4987-109insC MANE Select ENSP00000350283.3:n.4987-110_4987-109insC
ENST00000471181.7:c.5050-110_5050-109insC ENSP00000418960.2:n.5050-110_5050-109insC
ENST00000644379.1:c.1374-110_1374-109insC
ENST00000352993.7:c.1561-110_1561-109insC ENSP00000312236.5:n.1561-110_1561-109insC
ENST00000357654.7:c.4987-110_4987-109insC ENSP00000350283.3:n.4987-110_4987-109insC
ENST00000461221.5:c.*4770-110_*4770-109insC ENSP00000418548.1:n.*4770-110_*4770-109insC
ENST00000468300.5:c.1675-110_1675-109insC ENSP00000417148.1:n.1675-110_1675-109insC
ENST00000471181.6:c.5050-110_5050-109insC ENSP00000418960.2:n.5050-110_5050-109insC
ENST00000472490.1:n.140-110_140-109insC
ENST00000478531.5:c.1675-110_1675-109insC ENSP00000420412.1:n.1675-110_1675-109insC
ENST00000484087.5:c.1300-110_1300-109insC ENSP00000419481.1:n.1300-110_1300-109insC
ENST00000491747.6:c.1675-110_1675-109insC ENSP00000420705.2:n.1675-110_1675-109insC
ENST00000493795.5:c.4846-110_4846-109insC ENSP00000418775.1:n.4846-110_4846-109insC
ENST00000493919.5:c.1537-110_1537-109insC ENSP00000418819.1:n.1537-110_1537-109insC
ENST00000586385.5:c.5-3854_5-3853insC ENSP00000465818.1:n.5-3854_5-3853insC
ENST00000591534.5:c.460-110_460-109insC ENSP00000467329.1:n.460-110_460-109insC
ENST00000591849.5:c.-98-17615_-98-17614insC ENSP00000465347.1:n.-98-17615_-98-17614insC
NM_007294.3:c.4987-110_4987-109insC , LRG_292t1:c.4987-110_4987-109insC NP_009225.1:n.4987-110_4987-109insC
NM_007297.3:c.4846-110_4846-109insC NP_009228.2:n.4846-110_4846-109insC
NM_007298.3:c.1675-110_1675-109insC NP_009229.2:n.1675-110_1675-109insC
NM_007299.3:c.1675-110_1675-109insC NP_009230.2:n.1675-110_1675-109insC
NM_007300.3:c.5050-110_5050-109insC NP_009231.2:n.5050-110_5050-109insC
NR_027676.1:n.5123-110_5123-109insC
NM_007294.4:c.4987-110_4987-109insC MANE Select NP_009225.1:n.4987-110_4987-109insC
NM_007297.4:c.4846-110_4846-109insC NP_009228.2:n.4846-110_4846-109insC
NM_007299.4:c.1675-110_1675-109insC NP_009230.2:n.1675-110_1675-109insC
NM_007300.4:c.5050-110_5050-109insC NP_009231.2:n.5050-110_5050-109insC
NR_027676.2:n.5164-110_5164-109insC