Canonical Allele Identifier: CA2830782548

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076605del , CM000679.2:g.43076605del	GRCh38
NC_000017.10:g.41228622del , CM000679.1:g.41228622del	GRCh37
NC_000017.9:g.38482148del	NCBI36
NG_005905.2:g.141379del , LRG_292:g.141379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4364del	ENSP00000417241.2:p.Thr1455IlefsTer10
ENST00000470026.6:c.4367del	ENSP00000419274.2:p.Thr1456IlefsTer10
ENST00000473961.6:c.4241del	ENSP00000420201.2:p.Thr1414IlefsTer10
ENST00000476777.6:c.4361del	ENSP00000417554.2:p.Thr1454IlefsTer10
ENST00000477152.6:c.4289del	ENSP00000419988.2:p.Thr1430IlefsTer10
ENST00000478531.6:c.1055del	ENSP00000420412.2:p.Thr352IlefsTer10
ENST00000489037.2:c.4289del	ENSP00000420781.2:p.Thr1430IlefsTer10
ENST00000493919.6:c.917del	ENSP00000418819.2:p.Thr306IlefsTer10
ENST00000494123.6:c.4367del	ENSP00000419103.2:p.Thr1456IlefsTer10
ENST00000497488.2:c.3479del	ENSP00000418986.2:p.Thr1160IlefsTer10
ENST00000618469.2:c.4367del	ENSP00000478114.2:p.Thr1456IlefsTer10
ENST00000634433.2:c.4244del	ENSP00000489431.2:p.Thr1415IlefsTer10
ENST00000644379.2:c.4433del	ENSP00000496570.2:p.Thr1478IlefsTer10
ENST00000644555.2:c.917del	ENSP00000494614.2:p.Thr306IlefsTer10
ENST00000652672.2:c.4226del	ENSP00000498906.2:p.Thr1409IlefsTer10
ENST00000484087.6:c.929del	ENSP00000419481.2:p.Thr310IlefsTer10
ENST00000700182.1:c.974del	ENSP00000514849.1:p.Thr325IlefsTer10
ENST00000357654.9:c.4367del MANE Select	ENSP00000350283.3:p.Thr1456IlefsTer10
ENST00000471181.7:c.4430del	ENSP00000418960.2:p.Thr1477IlefsTer10
ENST00000644379.1:c.754del
ENST00000352993.7:c.941del	ENSP00000312236.5:p.Thr314IlefsTer10
ENST00000357654.7:c.4367del	ENSP00000350283.3:p.Thr1456IlefsTer10
ENST00000461221.5:c.*4150del	ENSP00000418548.1:n.*4150del
ENST00000461574.1:c.658del
ENST00000468300.5:c.1055del	ENSP00000417148.1:p.Thr352IlefsTer10
ENST00000471181.6:c.4430del	ENSP00000418960.2:p.Thr1477IlefsTer10
ENST00000478531.5:c.1055del	ENSP00000420412.1:p.Thr352IlefsTer10
ENST00000484087.5:c.680del	ENSP00000419481.1:p.Thr227IlefsTer10
ENST00000487825.5:c.683del	ENSP00000418212.1:p.Thr228IlefsTer10
ENST00000491747.6:c.1055del	ENSP00000420705.2:p.Thr352IlefsTer10
ENST00000493795.5:c.4226del	ENSP00000418775.1:p.Thr1409IlefsTer10
ENST00000493919.5:c.917del	ENSP00000418819.1:p.Thr306IlefsTer10
ENST00000586385.5:c.5-12654del	ENSP00000465818.1:n.5-12654del
ENST00000591534.5:c.-43-2084del	ENSP00000467329.1:n.-43-2084del
ENST00000591849.5:c.-98-26415del	ENSP00000465347.1:n.-98-26415del
ENST00000621897.1:n.258del
NM_007294.3:c.4367del , LRG_292t1:c.4367del	NP_009225.1:p.Thr1456IlefsTer10
NM_007297.3:c.4226del	NP_009228.2:p.Thr1409IlefsTer10
NM_007298.3:c.1055del	NP_009229.2:p.Thr352IlefsTer10
NM_007299.3:c.1055del	NP_009230.2:p.Thr352IlefsTer10
NM_007300.3:c.4430del	NP_009231.2:p.Thr1477IlefsTer10
NR_027676.1:n.4503del
NM_007294.4:c.4367del MANE Select	NP_009225.1:p.Thr1456IlefsTer10
NM_007297.4:c.4226del	NP_009228.2:p.Thr1409IlefsTer10
NM_007299.4:c.1055del	NP_009230.2:p.Thr352IlefsTer10
NM_007300.4:c.4430del	NP_009231.2:p.Thr1477IlefsTer10
NR_027676.2:n.4544del