Canonical Allele Identifier: CA2260761130
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43045777_43045778delinsAG , CM000679.2:g.43045777_43045778delinsAG GRCh38
NC_000017.10:g.41197794_41197795delinsAG , CM000679.1:g.41197794_41197795delinsAG GRCh37
NC_000017.9:g.38451320_38451321delinsAG NCBI36
NG_005905.2:g.172206_172207delinsCT , LRG_292:g.172206_172207delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5489_5490delinsCT ENSP00000417241.2:p.Pro1830=
ENST00000470026.6:c.5492_5493delinsCT ENSP00000419274.2:p.Pro1831=
ENST00000473961.6:c.5366_5367delinsCT ENSP00000420201.2:p.Pro1789=
ENST00000476777.6:c.5486_5487delinsCT ENSP00000417554.2:p.Pro1829=
ENST00000477152.6:c.5414_5415delinsCT ENSP00000419988.2:p.Pro1805=
ENST00000478531.6:c.2180_2181delinsCT ENSP00000420412.2:p.Pro727=
ENST00000489037.2:c.5414_5415delinsCT ENSP00000420781.2:p.Pro1805=
ENST00000493919.6:c.2042_2043delinsCT ENSP00000418819.2:p.Pro681=
ENST00000494123.6:c.5492_5493delinsCT ENSP00000419103.2:p.Pro1831=
ENST00000497488.2:c.4604_4605delinsCT ENSP00000418986.2:p.Pro1535=
ENST00000618469.2:c.5492_5493delinsCT ENSP00000478114.2:p.Pro1831=
ENST00000634433.2:c.5369_5370delinsCT ENSP00000489431.2:p.Pro1790=
ENST00000644379.2:c.5558_5559delinsCT ENSP00000496570.2:p.Pro1853=
ENST00000644555.2:c.2042_2043delinsCT ENSP00000494614.2:p.Pro681=
ENST00000652672.2:c.5351_5352delinsCT ENSP00000498906.2:p.Pro1784=
ENST00000484087.6:c.2054_2055delinsCT ENSP00000419481.2:p.Pro685=
ENST00000700081.1:n.1375_1376delinsCT
ENST00000700082.1:n.856_857delinsCT
ENST00000357654.9:c.5492_5493delinsCT MANE Select ENSP00000350283.3:p.Pro1831=
ENST00000471181.7:c.5555_5556delinsCT ENSP00000418960.2:p.Pro1852=
ENST00000644379.1:c.1879_1880delinsCT
ENST00000352993.7:c.2066_2067delinsCT ENSP00000312236.5:p.Pro689=
ENST00000357654.7:c.5492_5493delinsCT ENSP00000350283.3:p.Pro1831=
ENST00000461221.5:c.*5275_*5276delinsCT ENSP00000418548.1:n.*5275_*5276delinsCT
ENST00000468300.5:c.*6_*7delinsCT ENSP00000417148.1:n.*6_*7delinsCT
ENST00000471181.6:c.5555_5556delinsCT ENSP00000418960.2:p.Pro1852=
ENST00000491747.6:c.2180_2181delinsCT ENSP00000420705.2:p.Pro727=
ENST00000493795.5:c.5351_5352delinsCT ENSP00000418775.1:p.Pro1784=
ENST00000586385.5:c.422_423delinsCT ENSP00000465818.1:p.Pro141=
ENST00000591534.5:c.965_966delinsCT ENSP00000467329.1:p.Pro322=
ENST00000591849.5:c.191_192delinsCT ENSP00000465347.1:p.Pro64=
NM_007294.3:c.5492_5493delinsCT , LRG_292t1:c.5492_5493delinsCT NP_009225.1:p.Pro1831=
NM_007297.3:c.5351_5352delinsCT NP_009228.2:p.Pro1784=
NM_007298.3:c.2180_2181delinsCT NP_009229.2:p.Pro727=
NM_007299.3:c.*6_*7delinsCT NP_009230.2:n.*6_*7delinsCT
NM_007300.3:c.5555_5556delinsCT NP_009231.2:p.Pro1852=
NR_027676.1:n.5628_5629delinsCT
NM_007294.4:c.5492_5493delinsCT MANE Select NP_009225.1:p.Pro1831=
NM_007297.4:c.5351_5352delinsCT NP_009228.2:p.Pro1784=
NM_007299.4:c.*6_*7delinsCT NP_009230.2:n.*6_*7delinsCT
NM_007300.4:c.5555_5556delinsCT NP_009231.2:p.Pro1852=
NR_027676.2:n.5669_5670delinsCT