Canonical Allele Identifier: CA001072
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 156184
dbSNP Id: rs587776480

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093918_43093922del , CM000679.2:g.43093918_43093922del GRCh38
NC_000017.10:g.41245935_41245939del , CM000679.1:g.41245935_41245939del GRCh37
NC_000017.9:g.38499461_38499465del NCBI36
NG_005905.2:g.124065_124069del , LRG_292:g.124065_124069del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1676_1680del
ENST00000461574.2:c.1612_1616del ENSP00000417241.2:p.Gln538GlyfsTer11
ENST00000470026.6:c.1612_1616del ENSP00000419274.2:p.Gln538GlyfsTer11
ENST00000473961.6:c.1486_1490del ENSP00000420201.2:p.Gln496GlyfsTer11
ENST00000476777.6:c.1609_1613del ENSP00000417554.2:p.Gln537GlyfsTer11
ENST00000477152.6:c.1534_1538del ENSP00000419988.2:p.Gln512GlyfsTer11
ENST00000478531.6:c.784+825_784+829del ENSP00000420412.2:n.784+825_784+829del
ENST00000489037.2:c.1534_1538del ENSP00000420781.2:p.Gln512GlyfsTer11
ENST00000493919.6:c.646+825_646+829del ENSP00000418819.2:n.646+825_646+829del
ENST00000494123.6:c.1612_1616del ENSP00000419103.2:p.Gln538GlyfsTer11
ENST00000497488.2:c.724_728del ENSP00000418986.2:p.Gln242GlyfsTer11
ENST00000618469.2:c.1612_1616del ENSP00000478114.2:p.Gln538GlyfsTer11
ENST00000634433.2:c.1489_1493del ENSP00000489431.2:p.Gln497GlyfsTer11
ENST00000644379.2:c.1612_1616del ENSP00000496570.2:p.Gln538GlyfsTer11
ENST00000644555.2:c.646+825_646+829del ENSP00000494614.2:n.646+825_646+829del
ENST00000652672.2:c.1471_1475del ENSP00000498906.2:p.Gln491GlyfsTer11
ENST00000484087.6:c.664+825_664+829del ENSP00000419481.2:n.664+825_664+829del
ENST00000700182.1:c.706+825_706+829del ENSP00000514849.1:n.706+825_706+829del
ENST00000357654.9:c.1612_1616del MANE Select ENSP00000350283.3:p.Gln538GlyfsTer11
ENST00000471181.7:c.1612_1616del ENSP00000418960.2:p.Gln538GlyfsTer11
ENST00000652672.1:c.1471_1475del ENSP00000498906.1:p.Gln491GlyfsTer11
ENST00000352993.7:c.670+1927_670+1931del ENSP00000312236.5:n.670+1927_670+1931del
ENST00000354071.7:c.1612_1616del ENSP00000326002.7:p.Gln538GlyfsTer11
ENST00000357654.7:c.1612_1616del ENSP00000350283.3:p.Gln538GlyfsTer11
ENST00000412061.3:c.963_967del
ENST00000461221.5:c.*1395_*1399del ENSP00000418548.1:n.*1395_*1399del
ENST00000468300.5:c.787+825_787+829del ENSP00000417148.1:n.787+825_787+829del
ENST00000470026.5:c.1612_1616del ENSP00000419274.1:p.Gln538GlyfsTer11
ENST00000471181.6:c.1612_1616del ENSP00000418960.2:p.Gln538GlyfsTer11
ENST00000477152.5:c.1534_1538del ENSP00000419988.1:p.Gln512GlyfsTer11
ENST00000478531.5:c.784+825_784+829del ENSP00000420412.1:n.784+825_784+829del
ENST00000484087.5:c.409+825_409+829del ENSP00000419481.1:n.409+825_409+829del
ENST00000487825.5:c.412+825_412+829del ENSP00000418212.1:n.412+825_412+829del
ENST00000491747.6:c.787+825_787+829del ENSP00000420705.2:n.787+825_787+829del
ENST00000493795.5:c.1471_1475del ENSP00000418775.1:p.Gln491GlyfsTer11
ENST00000493919.5:c.646+825_646+829del ENSP00000418819.1:n.646+825_646+829del
ENST00000586385.5:c.5-29968_5-29964del ENSP00000465818.1:n.5-29968_5-29964del
ENST00000591534.5:c.-43-19398_-43-19394del ENSP00000467329.1:n.-43-19398_-43-19394de...
ENST00000591849.5:c.-99+31352_-99+31356del ENSP00000465347.1:n.-99+31352_-99+31356de...
ENST00000634433.1:c.1489_1493del ENSP00000489431.1:p.Gln497GlyfsTer11
NM_007294.3:c.1612_1616del , LRG_292t1:c.1612_1616del NP_009225.1:p.Gln538GlyfsTer11
NM_007297.3:c.1471_1475del NP_009228.2:p.Gln491GlyfsTer11
NM_007298.3:c.787+825_787+829del NP_009229.2:n.787+825_787+829del
NM_007299.3:c.787+825_787+829del NP_009230.2:n.787+825_787+829del
NM_007300.3:c.1612_1616del NP_009231.2:p.Gln538GlyfsTer11
NR_027676.1:n.1748_1752del
NM_007294.4:c.1612_1616del MANE Select NP_009225.1:p.Gln538GlyfsTer11
NM_007297.4:c.1471_1475del NP_009228.2:p.Gln491GlyfsTer11
NM_007299.4:c.787+825_787+829del NP_009230.2:n.787+825_787+829del
NM_007300.4:c.1612_1616del NP_009231.2:p.Gln538GlyfsTer11
NR_027676.2:n.1789_1793del