Canonical Allele Identifier: CA2260761076

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045736_43045738delinsTAG , CM000679.2:g.43045736_43045738delinsTAG	GRCh38
NC_000017.10:g.41197753_41197755delinsTAG , CM000679.1:g.41197753_41197755delinsTAG	GRCh37
NC_000017.9:g.38451279_38451281delinsTAG	NCBI36
NG_005905.2:g.172246_172248delinsCTA , LRG_292:g.172246_172248delinsCTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5529_5531delinsCTA	ENSP00000417241.2:p.Leu1843=
ENST00000470026.6:c.5532_5534delinsCTA	ENSP00000419274.2:p.Leu1844=
ENST00000473961.6:c.5406_5408delinsCTA	ENSP00000420201.2:p.Leu1802=
ENST00000476777.6:c.5526_5528delinsCTA	ENSP00000417554.2:p.Leu1842=
ENST00000477152.6:c.5454_5456delinsCTA	ENSP00000419988.2:p.Leu1818=
ENST00000478531.6:c.2220_2222delinsCTA	ENSP00000420412.2:p.Leu740=
ENST00000489037.2:c.5454_5456delinsCTA	ENSP00000420781.2:p.Leu1818=
ENST00000493919.6:c.2082_2084delinsCTA	ENSP00000418819.2:p.Leu694=
ENST00000494123.6:c.5532_5534delinsCTA	ENSP00000419103.2:p.Leu1844=
ENST00000497488.2:c.4644_4646delinsCTA	ENSP00000418986.2:p.Leu1548=
ENST00000618469.2:c.5532_5534delinsCTA	ENSP00000478114.2:p.Leu1844=
ENST00000634433.2:c.5409_5411delinsCTA	ENSP00000489431.2:p.Leu1803=
ENST00000644379.2:c.5598_5600delinsCTA	ENSP00000496570.2:p.Leu1866=
ENST00000644555.2:c.2082_2084delinsCTA	ENSP00000494614.2:p.Leu694=
ENST00000652672.2:c.5391_5393delinsCTA	ENSP00000498906.2:p.Leu1797=
ENST00000484087.6:c.2094_2096delinsCTA	ENSP00000419481.2:p.Leu698=
ENST00000700081.1:n.1415_1417delinsCTA
ENST00000700082.1:n.896_898delinsCTA
ENST00000357654.9:c.5532_5534delinsCTA MANE Select	ENSP00000350283.3:p.Leu1844=
ENST00000471181.7:c.5595_5597delinsCTA	ENSP00000418960.2:p.Leu1865=
ENST00000644379.1:c.1919_1921delinsCTA
ENST00000352993.7:c.2106_2108delinsCTA	ENSP00000312236.5:p.Leu702=
ENST00000357654.7:c.5532_5534delinsCTA	ENSP00000350283.3:p.Leu1844=
ENST00000461221.5:c.*5315_*5317delinsCTA	ENSP00000418548.1:n.*5315_*5317delinsCTA
ENST00000468300.5:c.*46_*48delinsCTA	ENSP00000417148.1:n.*46_*48delinsCTA
ENST00000471181.6:c.5595_5597delinsCTA	ENSP00000418960.2:p.Leu1865=
ENST00000491747.6:c.2220_2222delinsCTA	ENSP00000420705.2:p.Leu740=
ENST00000493795.5:c.5391_5393delinsCTA	ENSP00000418775.1:p.Leu1797=
ENST00000586385.5:c.462_464delinsCTA	ENSP00000465818.1:p.Leu154=
ENST00000591534.5:c.1005_1007delinsCTA	ENSP00000467329.1:p.Leu335=
ENST00000591849.5:c.231_233delinsCTA	ENSP00000465347.1:p.Leu77=
NM_007294.3:c.5532_5534delinsCTA , LRG_292t1:c.5532_5534delinsCTA	NP_009225.1:p.Leu1844=
NM_007297.3:c.5391_5393delinsCTA	NP_009228.2:p.Leu1797=
NM_007298.3:c.2220_2222delinsCTA	NP_009229.2:p.Leu740=
NM_007299.3:c.*46_*48delinsCTA	NP_009230.2:n.*46_*48delinsCTA
NM_007300.3:c.5595_5597delinsCTA	NP_009231.2:p.Leu1865=
NR_027676.1:n.5668_5670delinsCTA
NM_007294.4:c.5532_5534delinsCTA MANE Select	NP_009225.1:p.Leu1844=
NM_007297.4:c.5391_5393delinsCTA	NP_009228.2:p.Leu1797=
NM_007299.4:c.*46_*48delinsCTA	NP_009230.2:n.*46_*48delinsCTA
NM_007300.4:c.5595_5597delinsCTA	NP_009231.2:p.Leu1865=
NR_027676.2:n.5709_5711delinsCTA