Canonical Allele Identifier: CA658761220

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43076485-T-TACCTTTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076488_43076495dup , CM000679.2:g.43076488_43076495dup	GRCh38
NC_000017.10:g.41228505_41228512dup , CM000679.1:g.41228505_41228512dup	GRCh37
NC_000017.9:g.38482031_38482038dup	NCBI36
NG_005905.2:g.141491_141498dup , LRG_292:g.141491_141498dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4476_4481+2dup
ENST00000470026.6:c.4479_4484+2dup
ENST00000473961.6:c.4353_4358+2dup
ENST00000476777.6:c.4473_4478+2dup
ENST00000477152.6:c.4401_4406+2dup
ENST00000478531.6:c.1167_1172+2dup
ENST00000489037.2:c.4401_4406+2dup
ENST00000493919.6:c.1029_1034+2dup
ENST00000494123.6:c.4479_4484+2dup
ENST00000497488.2:c.3591_3596+2dup
ENST00000618469.2:c.4479_4484+2dup
ENST00000634433.2:c.4356_4361+2dup
ENST00000644379.2:c.4545_4550+2dup
ENST00000644555.2:c.1029_1034+2dup
ENST00000652672.2:c.4338_4343+2dup
ENST00000484087.6:c.1041_1046+2dup
ENST00000700182.1:c.1086_1091+2dup
ENST00000357654.9:c.4479_4484+2dup
ENST00000471181.7:c.4542_4547+2dup
ENST00000644379.1:c.866_871+2dup
ENST00000352993.7:c.1053_1058+2dup
ENST00000357654.7:c.4479_4484+2dup
ENST00000461221.5:c.*4262_*4267+2dup
ENST00000468300.5:c.1167_1172+2dup
ENST00000471181.6:c.4542_4547+2dup
ENST00000478531.5:c.1167_1172+2dup
ENST00000484087.5:c.792_797+2dup
ENST00000491747.6:c.1167_1172+2dup
ENST00000493795.5:c.4338_4343+2dup
ENST00000493919.5:c.1029_1034+2dup
ENST00000586385.5:c.5-12542_5-12535dup	ENSP00000465818.1:n.5-12542_5-12535dup
ENST00000591534.5:c.-43-1972_-43-1965dup	ENSP00000467329.1:n.-43-1972_-43-1965dup
ENST00000591849.5:c.-98-26303_-98-26296dup	ENSP00000465347.1:n.-98-26303_-98-26296dup
NM_007294.3:c.4479_4484+2dup , LRG_292t1:c.4479_4484+2dup
NM_007297.3:c.4338_4343+2dup
NM_007298.3:c.1167_1172+2dup
NM_007299.3:c.1167_1172+2dup
NM_007300.3:c.4542_4547+2dup
NR_027676.1:n.4615_4620+2dup
NM_007294.4:c.4479_4484+2dup
NM_007297.4:c.4338_4343+2dup
NM_007299.4:c.1167_1172+2dup
NM_007300.4:c.4542_4547+2dup
NR_027676.2:n.4656_4661+2dup