Canonical Allele Identifier: CA2260784573

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094053_43094054delinsAT , CM000679.2:g.43094053_43094054delinsAT	GRCh38
NC_000017.10:g.41246070_41246071delinsAT , CM000679.1:g.41246070_41246071delinsAT	GRCh37
NC_000017.9:g.38499596_38499597delinsAT	NCBI36
NG_005905.2:g.123930_123931delinsAT , LRG_292:g.123930_123931delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1541_1542delinsAT
ENST00000461574.2:c.1477_1478delinsAT	ENSP00000417241.2:p.Ile493=
ENST00000470026.6:c.1477_1478delinsAT	ENSP00000419274.2:p.Ile493=
ENST00000473961.6:c.1351_1352delinsAT	ENSP00000420201.2:p.Ile451=
ENST00000476777.6:c.1474_1475delinsAT	ENSP00000417554.2:p.Ile492=
ENST00000477152.6:c.1399_1400delinsAT	ENSP00000419988.2:p.Ile467=
ENST00000478531.6:c.784+690_784+691delinsAT	ENSP00000420412.2:n.784+690_784+691delinsAT
ENST00000489037.2:c.1399_1400delinsAT	ENSP00000420781.2:p.Ile467=
ENST00000493919.6:c.646+690_646+691delinsAT	ENSP00000418819.2:n.646+690_646+691delinsAT
ENST00000494123.6:c.1477_1478delinsAT	ENSP00000419103.2:p.Ile493=
ENST00000497488.2:c.589_590delinsAT	ENSP00000418986.2:p.Ile197=
ENST00000618469.2:c.1477_1478delinsAT	ENSP00000478114.2:p.Ile493=
ENST00000634433.2:c.1354_1355delinsAT	ENSP00000489431.2:p.Ile452=
ENST00000644379.2:c.1477_1478delinsAT	ENSP00000496570.2:p.Ile493=
ENST00000644555.2:c.646+690_646+691delinsAT	ENSP00000494614.2:n.646+690_646+691delinsAT
ENST00000652672.2:c.1336_1337delinsAT	ENSP00000498906.2:p.Ile446=
ENST00000484087.6:c.664+690_664+691delinsAT	ENSP00000419481.2:n.664+690_664+691delinsAT
ENST00000700182.1:c.706+690_706+691delinsAT	ENSP00000514849.1:n.706+690_706+691delinsAT
ENST00000700183.1:c.*1485_*1486delinsAT	ENSP00000514850.1:n.*1485_*1486delinsAT
ENST00000357654.9:c.1477_1478delinsAT MANE Select	ENSP00000350283.3:p.Ile493=
ENST00000471181.7:c.1477_1478delinsAT	ENSP00000418960.2:p.Ile493=
ENST00000652672.1:c.1336_1337delinsAT	ENSP00000498906.1:p.Ile446=
ENST00000352993.7:c.670+1792_670+1793delinsAT	ENSP00000312236.5:n.670+1792_670+1793delinsAT
ENST00000354071.7:c.1477_1478delinsAT	ENSP00000326002.7:p.Ile493=
ENST00000357654.7:c.1477_1478delinsAT	ENSP00000350283.3:p.Ile493=
ENST00000412061.3:c.828_829delinsAT
ENST00000461221.5:c.*1260_*1261delinsAT	ENSP00000418548.1:n.*1260_*1261delinsAT
ENST00000468300.5:c.787+690_787+691delinsAT	ENSP00000417148.1:n.787+690_787+691delinsAT
ENST00000470026.5:c.1477_1478delinsAT	ENSP00000419274.1:p.Ile493=
ENST00000471181.6:c.1477_1478delinsAT	ENSP00000418960.2:p.Ile493=
ENST00000477152.5:c.1399_1400delinsAT	ENSP00000419988.1:p.Ile467=
ENST00000478531.5:c.784+690_784+691delinsAT	ENSP00000420412.1:n.784+690_784+691delinsAT
ENST00000484087.5:c.409+690_409+691delinsAT	ENSP00000419481.1:n.409+690_409+691delinsAT
ENST00000487825.5:c.412+690_412+691delinsAT	ENSP00000418212.1:n.412+690_412+691delinsAT
ENST00000491747.6:c.787+690_787+691delinsAT	ENSP00000420705.2:n.787+690_787+691delinsAT
ENST00000493795.5:c.1336_1337delinsAT	ENSP00000418775.1:p.Ile446=
ENST00000493919.5:c.646+690_646+691delinsAT	ENSP00000418819.1:n.646+690_646+691delinsAT
ENST00000586385.5:c.5-30103_5-30102delinsAT	ENSP00000465818.1:n.5-30103_5-30102delinsAT
ENST00000591534.5:c.-43-19533_-43-19532delinsAT	ENSP00000467329.1:n.-43-19533_-43-19532delinsAT
ENST00000591849.5:c.-99+31217_-99+31218delinsAT	ENSP00000465347.1:n.-99+31217_-99+31218delinsAT
ENST00000634433.1:c.1354_1355delinsAT	ENSP00000489431.1:p.Ile452=
NM_007294.3:c.1477_1478delinsAT , LRG_292t1:c.1477_1478delinsAT	NP_009225.1:p.Ile493=
NM_007297.3:c.1336_1337delinsAT	NP_009228.2:p.Ile446=
NM_007298.3:c.787+690_787+691delinsAT	NP_009229.2:n.787+690_787+691delinsAT
NM_007299.3:c.787+690_787+691delinsAT	NP_009230.2:n.787+690_787+691delinsAT
NM_007300.3:c.1477_1478delinsAT	NP_009231.2:p.Ile493=
NR_027676.1:n.1613_1614delinsAT
NM_007294.4:c.1477_1478delinsAT MANE Select	NP_009225.1:p.Ile493=
NM_007297.4:c.1336_1337delinsAT	NP_009228.2:p.Ile446=
NM_007299.4:c.787+690_787+691delinsAT	NP_009230.2:n.787+690_787+691delinsAT
NM_007300.4:c.1477_1478delinsAT	NP_009231.2:p.Ile493=
NR_027676.2:n.1654_1655delinsAT