Canonical Allele Identifier: CA327883
Community Standard Title: NM_007294.4(BRCA1):c.3626dup (p.Leu1209PhefsTer10)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091906dup , CM000679.2:g.43091906dup GRCh38
NC_000017.10:g.41243923dup , CM000679.1:g.41243923dup GRCh37
NC_000017.9:g.38497449dup NCBI36
NG_005905.2:g.126079dup , LRG_292:g.126079dup

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.3626dup MANE Select NP_009225.1:p.Leu1209PhefsTer10
ENST00000357654.9:c.3626dup MANE Select ENSP00000350283.3:p.Leu1209PhefsTer10
NM_007294.3:c.3626dup , LRG_292t1:c.3626dup NP_009225.1:p.Leu1209PhefsTer10
NM_007297.3:c.3485dup NP_009228.2:p.Leu1162PhefsTer10
NM_007297.4:c.3485dup NP_009228.2:p.Leu1162PhefsTer10
NM_007298.3:c.788-873dup NP_009229.2:n.788-873dup
NM_007299.3:c.788-873dup NP_009230.2:n.788-873dup
NM_007299.4:c.788-873dup NP_009230.2:n.788-873dup
NM_007300.3:c.3626dup NP_009231.2:p.Leu1209PhefsTer10
NM_007300.4:c.3626dup NP_009231.2:p.Leu1209PhefsTer10
NR_027676.1:n.3762dup
NR_027676.2:n.3803dup
ENST00000352993.7:c.671-873dup ENSP00000312236.5:n.671-873dup
ENST00000354071.7:c.3626dup ENSP00000326002.7:p.Leu1209PhefsTer10
ENST00000354071.8:n.3690dup
ENST00000357654.7:c.3626dup ENSP00000350283.3:p.Leu1209PhefsTer10
ENST00000461221.5:c.*3409dup ENSP00000418548.1:n.*3409dup
ENST00000461574.2:c.3626dup ENSP00000417241.2:p.Leu1209PhefsTer10
ENST00000468300.5:c.788-873dup ENSP00000417148.1:n.788-873dup
ENST00000470026.6:c.3626dup ENSP00000419274.2:p.Leu1209PhefsTer10
ENST00000471181.6:c.3626dup ENSP00000418960.2:p.Leu1209PhefsTer10
ENST00000471181.7:c.3626dup ENSP00000418960.2:p.Leu1209PhefsTer10
ENST00000473961.6:c.3500dup ENSP00000420201.2:p.Leu1167PhefsTer10
ENST00000476777.6:c.3623dup ENSP00000417554.2:p.Leu1208PhefsTer10
ENST00000477152.6:c.3548dup ENSP00000419988.2:p.Leu1183PhefsTer10
ENST00000478531.5:c.785-873dup ENSP00000420412.1:n.785-873dup
ENST00000478531.6:c.785-873dup ENSP00000420412.2:n.785-873dup
ENST00000484087.5:c.410-873dup ENSP00000419481.1:n.410-873dup
ENST00000484087.6:c.665-873dup ENSP00000419481.2:n.665-873dup
ENST00000487825.5:c.413-873dup ENSP00000418212.1:n.413-873dup
ENST00000489037.2:c.3548dup ENSP00000420781.2:p.Leu1183PhefsTer10
ENST00000491747.6:c.788-873dup ENSP00000420705.2:n.788-873dup
ENST00000493795.5:c.3485dup ENSP00000418775.1:p.Leu1162PhefsTer10
ENST00000493919.5:c.647-873dup ENSP00000418819.1:n.647-873dup
ENST00000493919.6:c.647-873dup ENSP00000418819.2:n.647-873dup
ENST00000494123.6:c.3626dup ENSP00000419103.2:p.Leu1209PhefsTer10
ENST00000497488.2:c.2738dup ENSP00000418986.2:p.Leu913PhefsTer10
ENST00000586385.5:c.5-27954dup ENSP00000465818.1:n.5-27954dup
ENST00000591534.5:c.-43-17384dup ENSP00000467329.1:n.-43-17384dup
ENST00000591849.5:c.-99+33366dup ENSP00000465347.1:n.-99+33366dup
ENST00000618469.2:c.3626dup ENSP00000478114.2:p.Leu1209PhefsTer10
ENST00000634433.2:c.3503dup ENSP00000489431.2:p.Leu1168PhefsTer10
ENST00000644379.2:c.3626dup ENSP00000496570.2:p.Leu1209PhefsTer10
ENST00000644555.2:c.647-873dup ENSP00000494614.2:n.647-873dup
ENST00000652672.2:c.3485dup ENSP00000498906.2:p.Leu1162PhefsTer10
ENST00000700182.1:c.707-873dup ENSP00000514849.1:n.707-873dup