Canonical Allele Identifier: CA2580612622
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43045768_43045769del , CM000679.2:g.43045768_43045769del GRCh38
NC_000017.10:g.41197785_41197786del , CM000679.1:g.41197785_41197786del GRCh37
NC_000017.9:g.38451311_38451312del NCBI36
NG_005905.2:g.172216_172217del , LRG_292:g.172216_172217del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.5502_5503del MANE Select NP_009225.1:p.Glu1836ValfsTer?
ENST00000357654.9:c.5502_5503del MANE Select ENSP00000350283.3:p.Glu1836ValfsTer?
NM_007294.3:c.5502_5503del , LRG_292t1:c.5502_5503del NP_009225.1:p.Glu1836ValfsTer?
NM_007297.3:c.5361_5362del NP_009228.2:p.Glu1789ValfsTer?
NM_007297.4:c.5361_5362del NP_009228.2:p.Glu1789ValfsTer?
NM_007298.3:c.2190_2191del NP_009229.2:p.Glu732ValfsTer?
NM_007299.3:c.*16_*17del NP_009230.2:n.*16_*17del
NM_007299.4:c.*16_*17del NP_009230.2:n.*16_*17del
NM_007300.3:c.5565_5566del NP_009231.2:p.Glu1857ValfsTer?
NM_007300.4:c.5565_5566del NP_009231.2:p.Glu1857ValfsTer?
NR_027676.1:n.5638_5639del
NR_027676.2:n.5679_5680del
ENST00000352993.7:c.2076_2077del ENSP00000312236.5:p.Glu694ValfsTer?
ENST00000357654.7:c.5502_5503del ENSP00000350283.3:p.Glu1836ValfsTer?
ENST00000461221.5:c.*5285_*5286del ENSP00000418548.1:n.*5285_*5286del
ENST00000461574.2:c.5499_5500del ENSP00000417241.2:p.Glu1835ValfsTer?
ENST00000468300.5:c.*16_*17del ENSP00000417148.1:n.*16_*17del
ENST00000470026.6:c.5502_5503del ENSP00000419274.2:p.Glu1836ValfsTer?
ENST00000471181.6:c.5565_5566del ENSP00000418960.2:p.Glu1857ValfsTer?
ENST00000471181.7:c.5565_5566del ENSP00000418960.2:p.Glu1857ValfsTer?
ENST00000473961.6:c.5376_5377del ENSP00000420201.2:p.Glu1794ValfsTer?
ENST00000476777.6:c.5496_5497del ENSP00000417554.2:p.Glu1834ValfsTer?
ENST00000477152.6:c.5424_5425del ENSP00000419988.2:p.Glu1810ValfsTer?
ENST00000478531.6:c.2190_2191del ENSP00000420412.2:p.Glu732ValfsTer?
ENST00000484087.6:c.2064_2065del ENSP00000419481.2:p.Glu690ValfsTer?
ENST00000489037.2:c.5424_5425del ENSP00000420781.2:p.Glu1810ValfsTer?
ENST00000491747.6:c.2190_2191del ENSP00000420705.2:p.Glu732ValfsTer?
ENST00000493795.5:c.5361_5362del ENSP00000418775.1:p.Glu1789ValfsTer?
ENST00000493919.6:c.2052_2053del ENSP00000418819.2:p.Glu686ValfsTer?
ENST00000494123.6:c.5502_5503del ENSP00000419103.2:p.Glu1836ValfsTer?
ENST00000497488.2:c.4614_4615del ENSP00000418986.2:p.Glu1540ValfsTer?
ENST00000586385.5:c.432_433del ENSP00000465818.1:p.Glu146ValfsTer?
ENST00000591534.5:c.975_976del ENSP00000467329.1:p.Glu327ValfsTer?
ENST00000591849.5:c.201_202del ENSP00000465347.1:p.Glu69ValfsTer?
ENST00000618469.2:c.5502_5503del ENSP00000478114.2:p.Glu1836ValfsTer?
ENST00000634433.2:c.5379_5380del ENSP00000489431.2:p.Glu1795ValfsTer?
ENST00000644379.1:c.1889_1890del
ENST00000644379.2:c.5568_5569del ENSP00000496570.2:p.Glu1858ValfsTer?
ENST00000644555.2:c.2052_2053del ENSP00000494614.2:p.Glu686ValfsTer?
ENST00000652672.2:c.5361_5362del ENSP00000498906.2:p.Glu1789ValfsTer?
ENST00000700081.1:n.1385_1386del
ENST00000700082.1:n.866_867del