Canonical Allele Identifier: CA2260784187
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093646_43093650delinsTACTG , CM000679.2:g.43093646_43093650delinsTACTG GRCh38
NC_000017.10:g.41245663_41245667delinsTACTG , CM000679.1:g.41245663_41245667delinsTACTG GRCh37
NC_000017.9:g.38499189_38499193delinsTACTG NCBI36
NG_005905.2:g.124334_124338delinsCAGTA , LRG_292:g.124334_124338delinsCAGTA

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1945_1949delinsCAGTA
ENST00000461574.2:c.1881_1885delinsCAGTA ENSP00000417241.2:p.Val627=
ENST00000470026.6:c.1881_1885delinsCAGTA ENSP00000419274.2:p.Val627=
ENST00000473961.6:c.1755_1759delinsCAGTA ENSP00000420201.2:p.Val585=
ENST00000476777.6:c.1878_1882delinsCAGTA ENSP00000417554.2:p.Val626=
ENST00000477152.6:c.1803_1807delinsCAGTA ENSP00000419988.2:p.Val601=
ENST00000478531.6:c.784+1094_784+1098delinsCAGTA ENSP00000420412.2:n.784+1094_784+1098deli...
ENST00000489037.2:c.1803_1807delinsCAGTA ENSP00000420781.2:p.Val601=
ENST00000493919.6:c.646+1094_646+1098delinsCAGTA ENSP00000418819.2:n.646+1094_646+1098deli...
ENST00000494123.6:c.1881_1885delinsCAGTA ENSP00000419103.2:p.Val627=
ENST00000497488.2:c.993_997delinsCAGTA ENSP00000418986.2:p.Val331=
ENST00000618469.2:c.1881_1885delinsCAGTA ENSP00000478114.2:p.Val627=
ENST00000634433.2:c.1758_1762delinsCAGTA ENSP00000489431.2:p.Val586=
ENST00000644379.2:c.1881_1885delinsCAGTA ENSP00000496570.2:p.Val627=
ENST00000644555.2:c.646+1094_646+1098delinsCAGTA ENSP00000494614.2:n.646+1094_646+1098deli...
ENST00000652672.2:c.1740_1744delinsCAGTA ENSP00000498906.2:p.Val580=
ENST00000484087.6:c.664+1094_664+1098delinsCAGTA ENSP00000419481.2:n.664+1094_664+1098deli...
ENST00000700182.1:c.706+1094_706+1098delinsCAGTA ENSP00000514849.1:n.706+1094_706+1098deli...
ENST00000357654.9:c.1881_1885delinsCAGTA MANE Select ENSP00000350283.3:p.Val627=
ENST00000471181.7:c.1881_1885delinsCAGTA ENSP00000418960.2:p.Val627=
ENST00000652672.1:c.1740_1744delinsCAGTA ENSP00000498906.1:p.Val580=
ENST00000352993.7:c.670+2196_670+2200delinsCAGTA ENSP00000312236.5:n.670+2196_670+2200deli...
ENST00000354071.7:c.1881_1885delinsCAGTA ENSP00000326002.7:p.Val627=
ENST00000357654.7:c.1881_1885delinsCAGTA ENSP00000350283.3:p.Val627=
ENST00000412061.3:c.1232_1236delinsCAGTA
ENST00000461221.5:c.*1664_*1668delinsCAGTA ENSP00000418548.1:n.*1664_*1668delinsCAGT...
ENST00000468300.5:c.787+1094_787+1098delinsCAGTA ENSP00000417148.1:n.787+1094_787+1098deli...
ENST00000470026.5:c.1881_1885delinsCAGTA ENSP00000419274.1:p.Val627=
ENST00000471181.6:c.1881_1885delinsCAGTA ENSP00000418960.2:p.Val627=
ENST00000477152.5:c.1803_1807delinsCAGTA ENSP00000419988.1:p.Val601=
ENST00000478531.5:c.784+1094_784+1098delinsCAGTA ENSP00000420412.1:n.784+1094_784+1098deli...
ENST00000484087.5:c.409+1094_409+1098delinsCAGTA ENSP00000419481.1:n.409+1094_409+1098deli...
ENST00000487825.5:c.412+1094_412+1098delinsCAGTA ENSP00000418212.1:n.412+1094_412+1098deli...
ENST00000491747.6:c.787+1094_787+1098delinsCAGTA ENSP00000420705.2:n.787+1094_787+1098deli...
ENST00000493795.5:c.1740_1744delinsCAGTA ENSP00000418775.1:p.Val580=
ENST00000493919.5:c.646+1094_646+1098delinsCAGTA ENSP00000418819.1:n.646+1094_646+1098deli...
ENST00000586385.5:c.5-29699_5-29695delinsCAGTA ENSP00000465818.1:n.5-29699_5-29695delins...
ENST00000591534.5:c.-43-19129_-43-19125delinsCAGTA ENSP00000467329.1:n.-43-19129_-43-19125de...
ENST00000591849.5:c.-99+31621_-99+31625delinsCAGTA ENSP00000465347.1:n.-99+31621_-99+31625de...
ENST00000634433.1:c.1758_1762delinsCAGTA ENSP00000489431.1:p.Val586=
NM_007294.3:c.1881_1885delinsCAGTA , LRG_292t1:c.1881_1885delinsCAGTA NP_009225.1:p.Val627=
NM_007297.3:c.1740_1744delinsCAGTA NP_009228.2:p.Val580=
NM_007298.3:c.787+1094_787+1098delinsCAGTA NP_009229.2:n.787+1094_787+1098delinsCAGT...
NM_007299.3:c.787+1094_787+1098delinsCAGTA NP_009230.2:n.787+1094_787+1098delinsCAGT...
NM_007300.3:c.1881_1885delinsCAGTA NP_009231.2:p.Val627=
NR_027676.1:n.2017_2021delinsCAGTA
NM_007294.4:c.1881_1885delinsCAGTA MANE Select NP_009225.1:p.Val627=
NM_007297.4:c.1740_1744delinsCAGTA NP_009228.2:p.Val580=
NM_007299.4:c.787+1094_787+1098delinsCAGTA NP_009230.2:n.787+1094_787+1098delinsCAGT...
NM_007300.4:c.1881_1885delinsCAGTA NP_009231.2:p.Val627=
NR_027676.2:n.2058_2062delinsCAGTA