Canonical Allele Identifier: CA2695226256
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093552_43093555del , CM000679.2:g.43093552_43093555del GRCh38
NC_000017.10:g.41245569_41245572del , CM000679.1:g.41245569_41245572del GRCh37
NC_000017.9:g.38499095_38499098del NCBI36
NG_005905.2:g.124432_124435del , LRG_292:g.124432_124435del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.2043_2046del
ENST00000461574.2:c.1979_1982del ENSP00000417241.2:p.Val660GlyfsTer?
ENST00000470026.6:c.1979_1982del ENSP00000419274.2:p.Val660GlyfsTer?
ENST00000473961.6:c.1853_1856del ENSP00000420201.2:p.Val618GlyfsTer?
ENST00000476777.6:c.1976_1979del ENSP00000417554.2:p.Val659GlyfsTer?
ENST00000477152.6:c.1901_1904del ENSP00000419988.2:p.Val634GlyfsTer?
ENST00000478531.6:c.784+1192_784+1195del ENSP00000420412.2:n.784+1192_784+1195del
ENST00000489037.2:c.1901_1904del ENSP00000420781.2:p.Val634GlyfsTer?
ENST00000493919.6:c.646+1192_646+1195del ENSP00000418819.2:n.646+1192_646+1195del
ENST00000494123.6:c.1979_1982del ENSP00000419103.2:p.Val660GlyfsTer?
ENST00000497488.2:c.1091_1094del ENSP00000418986.2:p.Val364GlyfsTer?
ENST00000618469.2:c.1979_1982del ENSP00000478114.2:p.Val660GlyfsTer?
ENST00000634433.2:c.1856_1859del ENSP00000489431.2:p.Val619GlyfsTer?
ENST00000644379.2:c.1979_1982del ENSP00000496570.2:p.Val660GlyfsTer?
ENST00000644555.2:c.646+1192_646+1195del ENSP00000494614.2:n.646+1192_646+1195del
ENST00000652672.2:c.1838_1841del ENSP00000498906.2:p.Val613GlyfsTer?
ENST00000484087.6:c.664+1192_664+1195del ENSP00000419481.2:n.664+1192_664+1195del
ENST00000700182.1:c.706+1192_706+1195del ENSP00000514849.1:n.706+1192_706+1195del
ENST00000357654.9:c.1979_1982del MANE Select ENSP00000350283.3:p.Val660GlyfsTer?
ENST00000471181.7:c.1979_1982del ENSP00000418960.2:p.Val660GlyfsTer?
ENST00000352993.7:c.670+2294_670+2297del ENSP00000312236.5:n.670+2294_670+2297del
ENST00000354071.7:c.1979_1982del ENSP00000326002.7:p.Val660GlyfsTer?
ENST00000357654.7:c.1979_1982del ENSP00000350283.3:p.Val660GlyfsTer?
ENST00000461221.5:c.*1762_*1765del ENSP00000418548.1:n.*1762_*1765del
ENST00000468300.5:c.787+1192_787+1195del ENSP00000417148.1:n.787+1192_787+1195del
ENST00000471181.6:c.1979_1982del ENSP00000418960.2:p.Val660GlyfsTer?
ENST00000478531.5:c.784+1192_784+1195del ENSP00000420412.1:n.784+1192_784+1195del
ENST00000484087.5:c.409+1192_409+1195del ENSP00000419481.1:n.409+1192_409+1195del
ENST00000487825.5:c.412+1192_412+1195del ENSP00000418212.1:n.412+1192_412+1195del
ENST00000491747.6:c.787+1192_787+1195del ENSP00000420705.2:n.787+1192_787+1195del
ENST00000493795.5:c.1838_1841del ENSP00000418775.1:p.Val613GlyfsTer?
ENST00000493919.5:c.646+1192_646+1195del ENSP00000418819.1:n.646+1192_646+1195del
ENST00000586385.5:c.5-29601_5-29598del ENSP00000465818.1:n.5-29601_5-29598del
ENST00000591534.5:c.-43-19031_-43-19028del ENSP00000467329.1:n.-43-19031_-43-19028del
ENST00000591849.5:c.-99+31719_-99+31722del ENSP00000465347.1:n.-99+31719_-99+31722del
ENST00000634433.1:c.1856_1859del ENSP00000489431.1:p.Val619GlyfsTer?
NM_007294.3:c.1979_1982del , LRG_292t1:c.1979_1982del NP_009225.1:p.Val660GlyfsTer?
NM_007297.3:c.1838_1841del NP_009228.2:p.Val613GlyfsTer?
NM_007298.3:c.787+1192_787+1195del NP_009229.2:n.787+1192_787+1195del
NM_007299.3:c.787+1192_787+1195del NP_009230.2:n.787+1192_787+1195del
NM_007300.3:c.1979_1982del NP_009231.2:p.Val660GlyfsTer?
NR_027676.1:n.2115_2118del
NM_007294.4:c.1979_1982del MANE Select NP_009225.1:p.Val660GlyfsTer?
NM_007297.4:c.1838_1841del NP_009228.2:p.Val613GlyfsTer?
NM_007299.4:c.787+1192_787+1195del NP_009230.2:n.787+1192_787+1195del
NM_007300.4:c.1979_1982del NP_009231.2:p.Val660GlyfsTer?
NR_027676.2:n.2156_2159del