Canonical Allele Identifier: CA2260761022

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045700_43045701delinsTG , CM000679.2:g.43045700_43045701delinsTG	GRCh38
NC_000017.10:g.41197717_41197718delinsTG , CM000679.1:g.41197717_41197718delinsTG	GRCh37
NC_000017.9:g.38451243_38451244delinsTG	NCBI36
NG_005905.2:g.172283_172284delinsCA , LRG_292:g.172283_172284delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5566_5567delinsCA	ENSP00000417241.2:p.Gln1856=
ENST00000470026.6:c.5569_5570delinsCA	ENSP00000419274.2:p.Gln1857=
ENST00000473961.6:c.5443_5444delinsCA	ENSP00000420201.2:p.Gln1815=
ENST00000476777.6:c.5563_5564delinsCA	ENSP00000417554.2:p.Gln1855=
ENST00000477152.6:c.5491_5492delinsCA	ENSP00000419988.2:p.Gln1831=
ENST00000478531.6:c.2257_2258delinsCA	ENSP00000420412.2:p.Gln753=
ENST00000489037.2:c.5491_5492delinsCA	ENSP00000420781.2:p.Gln1831=
ENST00000493919.6:c.2119_2120delinsCA	ENSP00000418819.2:p.Gln707=
ENST00000494123.6:c.5569_5570delinsCA	ENSP00000419103.2:p.Gln1857=
ENST00000497488.2:c.4681_4682delinsCA	ENSP00000418986.2:p.Gln1561=
ENST00000618469.2:c.5569_5570delinsCA	ENSP00000478114.2:p.Gln1857=
ENST00000634433.2:c.5446_5447delinsCA	ENSP00000489431.2:p.Gln1816=
ENST00000644379.2:c.5635_5636delinsCA	ENSP00000496570.2:p.Gln1879=
ENST00000644555.2:c.2119_2120delinsCA	ENSP00000494614.2:p.Gln707=
ENST00000652672.2:c.5428_5429delinsCA	ENSP00000498906.2:p.Gln1810=
ENST00000484087.6:c.2131_2132delinsCA	ENSP00000419481.2:p.Gln711=
ENST00000700081.1:n.1452_1453delinsCA
ENST00000700082.1:n.933_934delinsCA
ENST00000357654.9:c.5569_5570delinsCA MANE Select	ENSP00000350283.3:p.Gln1857=
ENST00000471181.7:c.5632_5633delinsCA	ENSP00000418960.2:p.Gln1878=
ENST00000644379.1:c.1956_1957delinsCA
ENST00000352993.7:c.2143_2144delinsCA	ENSP00000312236.5:p.Gln715=
ENST00000357654.7:c.5569_5570delinsCA	ENSP00000350283.3:p.Gln1857=
ENST00000461221.5:c.*5352_*5353delinsCA	ENSP00000418548.1:n.*5352_*5353delinsCA
ENST00000468300.5:c.*83_*84delinsCA	ENSP00000417148.1:n.*83_*84delinsCA
ENST00000471181.6:c.5632_5633delinsCA	ENSP00000418960.2:p.Gln1878=
ENST00000491747.6:c.2257_2258delinsCA	ENSP00000420705.2:p.Gln753=
ENST00000493795.5:c.5428_5429delinsCA	ENSP00000418775.1:p.Gln1810=
ENST00000586385.5:c.499_500delinsCA	ENSP00000465818.1:p.Gln167=
ENST00000591534.5:c.1042_1043delinsCA	ENSP00000467329.1:p.Gln348=
ENST00000591849.5:c.268_269delinsCA	ENSP00000465347.1:p.Gln90=
NM_007294.3:c.5569_5570delinsCA , LRG_292t1:c.5569_5570delinsCA	NP_009225.1:p.Gln1857=
NM_007297.3:c.5428_5429delinsCA	NP_009228.2:p.Gln1810=
NM_007298.3:c.2257_2258delinsCA	NP_009229.2:p.Gln753=
NM_007299.3:c.*83_*84delinsCA	NP_009230.2:n.*83_*84delinsCA
NM_007300.3:c.5632_5633delinsCA	NP_009231.2:p.Gln1878=
NR_027676.1:n.5705_5706delinsCA
NM_007294.4:c.5569_5570delinsCA MANE Select	NP_009225.1:p.Gln1857=
NM_007297.4:c.5428_5429delinsCA	NP_009228.2:p.Gln1810=
NM_007299.4:c.*83_*84delinsCA	NP_009230.2:n.*83_*84delinsCA
NM_007300.4:c.5632_5633delinsCA	NP_009231.2:p.Gln1878=
NR_027676.2:n.5746_5747delinsCA