Canonical Allele Identifier: CA2739290972

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093647_43093669del , CM000679.2:g.43093647_43093669del	GRCh38
NC_000017.10:g.41245664_41245686del , CM000679.1:g.41245664_41245686del	GRCh37
NC_000017.9:g.38499190_38499212del	NCBI36
NG_005905.2:g.124316_124338del , LRG_292:g.124316_124338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1927_1949del
ENST00000461574.2:c.1863_1885del	ENSP00000417241.2:p.His621GlnfsTer7
ENST00000470026.6:c.1863_1885del	ENSP00000419274.2:p.His621GlnfsTer7
ENST00000473961.6:c.1737_1759del	ENSP00000420201.2:p.His579GlnfsTer7
ENST00000476777.6:c.1860_1882del	ENSP00000417554.2:p.His620GlnfsTer7
ENST00000477152.6:c.1785_1807del	ENSP00000419988.2:p.His595GlnfsTer7
ENST00000478531.6:c.784+1076_784+1098del	ENSP00000420412.2:n.784+1076_784+1098del
ENST00000489037.2:c.1785_1807del	ENSP00000420781.2:p.His595GlnfsTer7
ENST00000493919.6:c.646+1076_646+1098del	ENSP00000418819.2:n.646+1076_646+1098del
ENST00000494123.6:c.1863_1885del	ENSP00000419103.2:p.His621GlnfsTer7
ENST00000497488.2:c.975_997del	ENSP00000418986.2:p.His325GlnfsTer7
ENST00000618469.2:c.1863_1885del	ENSP00000478114.2:p.His621GlnfsTer7
ENST00000634433.2:c.1740_1762del	ENSP00000489431.2:p.His580GlnfsTer7
ENST00000644379.2:c.1863_1885del	ENSP00000496570.2:p.His621GlnfsTer7
ENST00000644555.2:c.646+1076_646+1098del	ENSP00000494614.2:n.646+1076_646+1098del
ENST00000652672.2:c.1722_1744del	ENSP00000498906.2:p.His574GlnfsTer7
ENST00000484087.6:c.664+1076_664+1098del	ENSP00000419481.2:n.664+1076_664+1098del
ENST00000700182.1:c.706+1076_706+1098del	ENSP00000514849.1:n.706+1076_706+1098del
ENST00000357654.9:c.1863_1885del MANE Select	ENSP00000350283.3:p.His621GlnfsTer7
ENST00000471181.7:c.1863_1885del	ENSP00000418960.2:p.His621GlnfsTer7
ENST00000652672.1:c.1722_1744del	ENSP00000498906.1:p.His574GlnfsTer7
ENST00000352993.7:c.670+2178_670+2200del	ENSP00000312236.5:n.670+2178_670+2200del
ENST00000354071.7:c.1863_1885del	ENSP00000326002.7:p.His621GlnfsTer7
ENST00000357654.7:c.1863_1885del	ENSP00000350283.3:p.His621GlnfsTer7
ENST00000412061.3:c.1214_1236del
ENST00000461221.5:c.*1646_*1668del	ENSP00000418548.1:n.*1646_*1668del
ENST00000468300.5:c.787+1076_787+1098del	ENSP00000417148.1:n.787+1076_787+1098del
ENST00000470026.5:c.1863_1885del	ENSP00000419274.1:p.His621GlnfsTer7
ENST00000471181.6:c.1863_1885del	ENSP00000418960.2:p.His621GlnfsTer7
ENST00000477152.5:c.1785_1807del	ENSP00000419988.1:p.His595GlnfsTer7
ENST00000478531.5:c.784+1076_784+1098del	ENSP00000420412.1:n.784+1076_784+1098del
ENST00000484087.5:c.409+1076_409+1098del	ENSP00000419481.1:n.409+1076_409+1098del
ENST00000487825.5:c.412+1076_412+1098del	ENSP00000418212.1:n.412+1076_412+1098del
ENST00000491747.6:c.787+1076_787+1098del	ENSP00000420705.2:n.787+1076_787+1098del
ENST00000493795.5:c.1722_1744del	ENSP00000418775.1:p.His574GlnfsTer7
ENST00000493919.5:c.646+1076_646+1098del	ENSP00000418819.1:n.646+1076_646+1098del
ENST00000586385.5:c.5-29717_5-29695del	ENSP00000465818.1:n.5-29717_5-29695del
ENST00000591534.5:c.-43-19147_-43-19125del	ENSP00000467329.1:n.-43-19147_-43-19125del
ENST00000591849.5:c.-99+31603_-99+31625del	ENSP00000465347.1:n.-99+31603_-99+31625del
ENST00000634433.1:c.1740_1762del	ENSP00000489431.1:p.His580GlnfsTer7
NM_007294.3:c.1863_1885del , LRG_292t1:c.1863_1885del	NP_009225.1:p.His621GlnfsTer7
NM_007297.3:c.1722_1744del	NP_009228.2:p.His574GlnfsTer7
NM_007298.3:c.787+1076_787+1098del	NP_009229.2:n.787+1076_787+1098del
NM_007299.3:c.787+1076_787+1098del	NP_009230.2:n.787+1076_787+1098del
NM_007300.3:c.1863_1885del	NP_009231.2:p.His621GlnfsTer7
NR_027676.1:n.1999_2021del
NM_007294.4:c.1863_1885del MANE Select	NP_009225.1:p.His621GlnfsTer7
NM_007297.4:c.1722_1744del	NP_009228.2:p.His574GlnfsTer7
NM_007299.4:c.787+1076_787+1098del	NP_009230.2:n.787+1076_787+1098del
NM_007300.4:c.1863_1885del	NP_009231.2:p.His621GlnfsTer7
NR_027676.2:n.2040_2062del