Canonical Allele Identifier: CA2638062228
Gene: BRCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43067844_43067845insG , CM000679.2:g.43067844_43067845insG GRCh38
NC_000017.10:g.41219861_41219862insG , CM000679.1:g.41219861_41219862insG GRCh37
NC_000017.9:g.38473387_38473388insG NCBI36
NG_005905.2:g.150139_150140insC , LRG_292:g.150139_150140insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4984-150_4984-149insC ENSP00000417241.2:n.4984-150_4984-149insC
ENST00000470026.6:c.4987-150_4987-149insC ENSP00000419274.2:n.4987-150_4987-149insC
ENST00000473961.6:c.4861-150_4861-149insC ENSP00000420201.2:n.4861-150_4861-149insC
ENST00000476777.6:c.4981-150_4981-149insC ENSP00000417554.2:n.4981-150_4981-149insC
ENST00000477152.6:c.4909-150_4909-149insC ENSP00000419988.2:n.4909-150_4909-149insC
ENST00000478531.6:c.1675-150_1675-149insC ENSP00000420412.2:n.1675-150_1675-149insC
ENST00000489037.2:c.4909-150_4909-149insC ENSP00000420781.2:n.4909-150_4909-149insC
ENST00000493919.6:c.1537-150_1537-149insC ENSP00000418819.2:n.1537-150_1537-149insC
ENST00000494123.6:c.4987-150_4987-149insC ENSP00000419103.2:n.4987-150_4987-149insC
ENST00000497488.2:c.4099-150_4099-149insC ENSP00000418986.2:n.4099-150_4099-149insC
ENST00000618469.2:c.4987-150_4987-149insC ENSP00000478114.2:n.4987-150_4987-149insC
ENST00000634433.2:c.4864-150_4864-149insC ENSP00000489431.2:n.4864-150_4864-149insC
ENST00000644379.2:c.5053-150_5053-149insC ENSP00000496570.2:n.5053-150_5053-149insC
ENST00000644555.2:c.1537-150_1537-149insC ENSP00000494614.2:n.1537-150_1537-149insC
ENST00000652672.2:c.4846-150_4846-149insC ENSP00000498906.2:n.4846-150_4846-149insC
ENST00000484087.6:c.1549-150_1549-149insC ENSP00000419481.2:n.1549-150_1549-149insC
ENST00000357654.9:c.4987-150_4987-149insC MANE Select ENSP00000350283.3:n.4987-150_4987-149insC
ENST00000471181.7:c.5050-150_5050-149insC ENSP00000418960.2:n.5050-150_5050-149insC
ENST00000644379.1:c.1374-150_1374-149insC
ENST00000352993.7:c.1561-150_1561-149insC ENSP00000312236.5:n.1561-150_1561-149insC
ENST00000357654.7:c.4987-150_4987-149insC ENSP00000350283.3:n.4987-150_4987-149insC
ENST00000461221.5:c.*4770-150_*4770-149insC ENSP00000418548.1:n.*4770-150_*4770-149insC
ENST00000468300.5:c.1675-150_1675-149insC ENSP00000417148.1:n.1675-150_1675-149insC
ENST00000471181.6:c.5050-150_5050-149insC ENSP00000418960.2:n.5050-150_5050-149insC
ENST00000472490.1:n.140-150_140-149insC
ENST00000478531.5:c.1675-150_1675-149insC ENSP00000420412.1:n.1675-150_1675-149insC
ENST00000484087.5:c.1300-150_1300-149insC ENSP00000419481.1:n.1300-150_1300-149insC
ENST00000491747.6:c.1675-150_1675-149insC ENSP00000420705.2:n.1675-150_1675-149insC
ENST00000493795.5:c.4846-150_4846-149insC ENSP00000418775.1:n.4846-150_4846-149insC
ENST00000493919.5:c.1537-150_1537-149insC ENSP00000418819.1:n.1537-150_1537-149insC
ENST00000586385.5:c.5-3894_5-3893insC ENSP00000465818.1:n.5-3894_5-3893insC
ENST00000591534.5:c.460-150_460-149insC ENSP00000467329.1:n.460-150_460-149insC
ENST00000591849.5:c.-98-17655_-98-17654insC ENSP00000465347.1:n.-98-17655_-98-17654insC
NM_007294.3:c.4987-150_4987-149insC , LRG_292t1:c.4987-150_4987-149insC NP_009225.1:n.4987-150_4987-149insC
NM_007297.3:c.4846-150_4846-149insC NP_009228.2:n.4846-150_4846-149insC
NM_007298.3:c.1675-150_1675-149insC NP_009229.2:n.1675-150_1675-149insC
NM_007299.3:c.1675-150_1675-149insC NP_009230.2:n.1675-150_1675-149insC
NM_007300.3:c.5050-150_5050-149insC NP_009231.2:n.5050-150_5050-149insC
NR_027676.1:n.5123-150_5123-149insC
NM_007294.4:c.4987-150_4987-149insC MANE Select NP_009225.1:n.4987-150_4987-149insC
NM_007297.4:c.4846-150_4846-149insC NP_009228.2:n.4846-150_4846-149insC
NM_007299.4:c.1675-150_1675-149insC NP_009230.2:n.1675-150_1675-149insC
NM_007300.4:c.5050-150_5050-149insC NP_009231.2:n.5050-150_5050-149insC
NR_027676.2:n.5164-150_5164-149insC