Canonical Allele Identifier: CA003862
Community Standard Title: NM_007294.4(BRCA1):c.775del (p.Glu259LysfsTer?)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094756del , CM000679.2:g.43094756del GRCh38
NC_000017.10:g.41246773del , CM000679.1:g.41246773del GRCh37
NC_000017.9:g.38500299del NCBI36
NG_005905.2:g.123228del , LRG_292:g.123228del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.775del MANE Select NP_009225.1:p.Glu259LysfsTer?
ENST00000357654.9:c.775del MANE Select ENSP00000350283.3:p.Glu259LysfsTer?
NM_007294.3:c.775del , LRG_292t1:c.775del NP_009225.1:p.Glu259LysfsTer?
NM_007297.3:c.634del NP_009228.2:p.Glu212LysfsTer?
NM_007297.4:c.634del NP_009228.2:p.Glu212LysfsTer?
NM_007298.3:c.775del NP_009229.2:p.Glu259LysfsTer?
NM_007299.3:c.775del NP_009230.2:p.Glu259LysfsTer?
NM_007299.4:c.775del NP_009230.2:p.Glu259LysfsTer?
NM_007300.3:c.775del NP_009231.2:p.Glu259LysfsTer?
NM_007300.4:c.775del NP_009231.2:p.Glu259LysfsTer?
NR_027676.1:n.911del
NR_027676.2:n.952del
ENST00000352993.7:c.670+1090del ENSP00000312236.5:n.670+1090del
ENST00000354071.7:c.775del ENSP00000326002.7:p.Glu259LysfsTer?
ENST00000354071.8:n.839del
ENST00000357654.7:c.775del ENSP00000350283.3:p.Glu259LysfsTer?
ENST00000412061.3:c.126del
ENST00000461221.5:c.*558del ENSP00000418548.1:n.*558del
ENST00000461574.2:c.775del ENSP00000417241.2:p.Glu259LysfsTer?
ENST00000468300.5:c.775del ENSP00000417148.1:p.Glu259LysfsTer?
ENST00000470026.5:c.775del ENSP00000419274.1:p.Glu259LysfsTer?
ENST00000470026.6:c.775del ENSP00000419274.2:p.Glu259LysfsTer?
ENST00000471181.6:c.775del ENSP00000418960.2:p.Glu259LysfsTer?
ENST00000471181.7:c.775del ENSP00000418960.2:p.Glu259LysfsTer?
ENST00000473961.5:c.372del
ENST00000473961.6:c.649del ENSP00000420201.2:p.Glu217LysfsTer?
ENST00000476777.6:c.772del ENSP00000417554.2:p.Glu258LysfsTer?
ENST00000477152.5:c.697del ENSP00000419988.1:p.Glu233LysfsTer?
ENST00000477152.6:c.697del ENSP00000419988.2:p.Glu233LysfsTer?
ENST00000478531.5:c.772del ENSP00000420412.1:p.Glu258LysfsTer?
ENST00000478531.6:c.772del ENSP00000420412.2:p.Glu258LysfsTer?
ENST00000484087.5:c.397del ENSP00000419481.1:p.Glu133LysfsTer?
ENST00000484087.6:c.652del ENSP00000419481.2:p.Glu218LysfsTer?
ENST00000487825.5:c.400del ENSP00000418212.1:p.Glu134LysfsTer?
ENST00000489037.2:c.697del ENSP00000420781.2:p.Glu233LysfsTer?
ENST00000491747.6:c.775del ENSP00000420705.2:p.Glu259LysfsTer?
ENST00000492859.5:c.*711del ENSP00000420253.1:n.*711del
ENST00000493795.5:c.634del ENSP00000418775.1:p.Glu212LysfsTer?
ENST00000493919.5:c.634del ENSP00000418819.1:p.Glu212LysfsTer?
ENST00000493919.6:c.634del ENSP00000418819.2:p.Glu212LysfsTer?
ENST00000494123.5:c.775del ENSP00000419103.1:p.Glu259LysfsTer?
ENST00000494123.6:c.775del ENSP00000419103.2:p.Glu259LysfsTer?
ENST00000497488.1:c.-114del ENSP00000418986.1:n.-114del
ENST00000497488.2:c.-114del ENSP00000418986.2:n.-114del
ENST00000586385.5:c.4+30426del ENSP00000465818.1:n.4+30426del
ENST00000591534.5:c.-43-20235del ENSP00000467329.1:n.-43-20235del
ENST00000591849.5:c.-99+30515del ENSP00000465347.1:n.-99+30515del
ENST00000618469.2:c.775del ENSP00000478114.2:p.Glu259LysfsTer?
ENST00000634433.1:c.652del ENSP00000489431.1:p.Glu218LysfsTer?
ENST00000634433.2:c.652del ENSP00000489431.2:p.Glu218LysfsTer?
ENST00000642945.1:c.*649del ENSP00000495897.1:n.*649del
ENST00000644379.2:c.775del ENSP00000496570.2:p.Glu259LysfsTer?
ENST00000644555.2:c.634del ENSP00000494614.2:p.Glu212LysfsTer?
ENST00000652672.1:c.634del ENSP00000498906.1:p.Glu212LysfsTer?
ENST00000652672.2:c.634del ENSP00000498906.2:p.Glu212LysfsTer?
ENST00000700182.1:c.694del ENSP00000514849.1:p.Glu232LysfsTer?
ENST00000700183.1:c.*783del ENSP00000514850.1:n.*783del