Canonical Allele Identifier: CA919844279
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1597806452

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43052882_43052883insG , CM000679.2:g.43052882_43052883insG GRCh38
NC_000017.10:g.41204899_41204900insG , CM000679.1:g.41204899_41204900insG GRCh37
NC_000017.9:g.38458425_38458426insG NCBI36
NG_005905.2:g.165101_165102insC , LRG_292:g.165101_165102insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5275-1766_5275-1765insC ENSP00000417241.2:n.5275-1766_5275-1765insC
ENST00000470026.6:c.5278-1766_5278-1765insC ENSP00000419274.2:n.5278-1766_5278-1765insC
ENST00000473961.6:c.5152-1766_5152-1765insC ENSP00000420201.2:n.5152-1766_5152-1765insC
ENST00000476777.6:c.5272-1766_5272-1765insC ENSP00000417554.2:n.5272-1766_5272-1765insC
ENST00000477152.6:c.5200-1766_5200-1765insC ENSP00000419988.2:n.5200-1766_5200-1765insC
ENST00000478531.6:c.1966-1766_1966-1765insC ENSP00000420412.2:n.1966-1766_1966-1765insC
ENST00000489037.2:c.5200-1766_5200-1765insC ENSP00000420781.2:n.5200-1766_5200-1765insC
ENST00000493919.6:c.1828-1766_1828-1765insC ENSP00000418819.2:n.1828-1766_1828-1765insC
ENST00000494123.6:c.5278-1766_5278-1765insC ENSP00000419103.2:n.5278-1766_5278-1765insC
ENST00000497488.2:c.4390-1766_4390-1765insC ENSP00000418986.2:n.4390-1766_4390-1765insC
ENST00000618469.2:c.5278-1766_5278-1765insC ENSP00000478114.2:n.5278-1766_5278-1765insC
ENST00000634433.2:c.5155-1766_5155-1765insC ENSP00000489431.2:n.5155-1766_5155-1765insC
ENST00000644379.2:c.5344-1766_5344-1765insC ENSP00000496570.2:n.5344-1766_5344-1765insC
ENST00000644555.2:c.1828-1766_1828-1765insC ENSP00000494614.2:n.1828-1766_1828-1765insC
ENST00000652672.2:c.5137-1766_5137-1765insC ENSP00000498906.2:n.5137-1766_5137-1765insC
ENST00000484087.6:c.1840-1766_1840-1765insC ENSP00000419481.2:n.1840-1766_1840-1765insC
ENST00000357654.9:c.5278-1766_5278-1765insC MANE Select ENSP00000350283.3:n.5278-1766_5278-1765insC
ENST00000471181.7:c.5341-1766_5341-1765insC ENSP00000418960.2:n.5341-1766_5341-1765insC
ENST00000644379.1:c.1665-1766_1665-1765insC
ENST00000352993.7:c.1852-1766_1852-1765insC ENSP00000312236.5:n.1852-1766_1852-1765insC
ENST00000357654.7:c.5278-1766_5278-1765insC ENSP00000350283.3:n.5278-1766_5278-1765insC
ENST00000461221.5:c.*5061-1766_*5061-1765insC ENSP00000418548.1:n.*5061-1766_*5061-1765insC
ENST00000468300.5:c.1966-1766_1966-1765insC ENSP00000417148.1:n.1966-1766_1966-1765insC
ENST00000471181.6:c.5341-1766_5341-1765insC ENSP00000418960.2:n.5341-1766_5341-1765insC
ENST00000491747.6:c.1966-1766_1966-1765insC ENSP00000420705.2:n.1966-1766_1966-1765insC
ENST00000493795.5:c.5137-1766_5137-1765insC ENSP00000418775.1:n.5137-1766_5137-1765insC
ENST00000586385.5:c.208-1766_208-1765insC ENSP00000465818.1:n.208-1766_208-1765insC
ENST00000591534.5:c.751-1766_751-1765insC ENSP00000467329.1:n.751-1766_751-1765insC
ENST00000591849.5:c.-98-2693_-98-2692insC ENSP00000465347.1:n.-98-2693_-98-2692insC
NM_007294.3:c.5278-1766_5278-1765insC , LRG_292t1:c.5278-1766_5278-1765insC NP_009225.1:n.5278-1766_5278-1765insC
NM_007297.3:c.5137-1766_5137-1765insC NP_009228.2:n.5137-1766_5137-1765insC
NM_007298.3:c.1966-1766_1966-1765insC NP_009229.2:n.1966-1766_1966-1765insC
NM_007299.3:c.1966-1766_1966-1765insC NP_009230.2:n.1966-1766_1966-1765insC
NM_007300.3:c.5341-1766_5341-1765insC NP_009231.2:n.5341-1766_5341-1765insC
NR_027676.1:n.5414-1766_5414-1765insC
NM_007294.4:c.5278-1766_5278-1765insC MANE Select NP_009225.1:n.5278-1766_5278-1765insC
NM_007297.4:c.5137-1766_5137-1765insC NP_009228.2:n.5137-1766_5137-1765insC
NM_007299.4:c.1966-1766_1966-1765insC NP_009230.2:n.1966-1766_1966-1765insC
NM_007300.4:c.5341-1766_5341-1765insC NP_009231.2:n.5341-1766_5341-1765insC
NR_027676.2:n.5455-1766_5455-1765insC