Canonical Allele Identifier: CA2580612642
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43075650_43084252dup , CM000679.2:g.43075650_43084252dup GRCh38
NC_000017.10:g.41227667_41236269dup , CM000679.1:g.41227667_41236269dup GRCh37
NC_000017.9:g.38481193_38489795dup NCBI36
NG_005905.2:g.133733_142335dup , LRG_292:g.133733_142335dup

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4186-1676_4481+839dup
ENST00000470026.6:c.4186-1676_4484+839dup
ENST00000473961.6:c.4060-1676_4358+839dup
ENST00000476777.6:c.4183-1679_4478+839dup
ENST00000477152.6:c.4108-1676_4406+839dup
ENST00000478531.6:c.874-1676_1172+839dup
ENST00000489037.2:c.4108-1676_4406+839dup
ENST00000493919.6:c.736-1676_1034+839dup
ENST00000494123.6:c.4186-1676_4484+839dup
ENST00000497488.2:c.3298-1676_3596+839dup
ENST00000618469.2:c.4186-1676_4484+839dup
ENST00000634433.2:c.4063-1676_4361+839dup
ENST00000644379.2:c.4186-1676_4550+839dup
ENST00000644555.2:c.736-1676_1034+839dup
ENST00000652672.2:c.4045-1676_4343+839dup
ENST00000484087.6:c.754-1679_1046+839dup
ENST00000700182.1:c.796-1676_1091+839dup
ENST00000357654.9:c.4186-1676_4484+839dup
ENST00000471181.7:c.4186-1676_4547+839dup
ENST00000644379.1:c.507-1676_871+839dup
ENST00000352993.7:c.760-1676_1058+839dup
ENST00000357654.7:c.4186-1676_4484+839dup
ENST00000461221.5:c.*3969-1676_*4267+839dup
ENST00000468300.5:c.877-1676_1172+839dup
ENST00000471181.6:c.4186-1676_4547+839dup
ENST00000478531.5:c.874-1676_1172+839dup
ENST00000484087.5:c.499-1676_797+839dup
ENST00000491747.6:c.877-1676_1172+839dup
ENST00000493795.5:c.4045-1676_4343+839dup
ENST00000493919.5:c.736-1676_1034+839dup
ENST00000586385.5:c.5-20300_5-11698dup ENSP00000465818.1:n.5-20300_5-11698dup
ENST00000591534.5:c.-43-9730_-43-1128dup ENSP00000467329.1:n.-43-9730_-43-1128dup
ENST00000591849.5:c.-98-34061_-98-25459dup ENSP00000465347.1:n.-98-34061_-98-25459du...
NM_007294.3:c.4186-1676_4484+839dup , LRG_292t1:c.4186-1676_4484+839dup
NM_007297.3:c.4045-1676_4343+839dup
NM_007298.3:c.877-1676_1172+839dup
NM_007299.3:c.877-1676_1172+839dup
NM_007300.3:c.4186-1676_4547+839dup
NR_027676.1:n.4322-1676_4620+839dup
NM_007294.4:c.4186-1676_4484+839dup
NM_007297.4:c.4045-1676_4343+839dup
NM_007299.4:c.877-1676_1172+839dup
NM_007300.4:c.4186-1676_4547+839dup
NR_027676.2:n.4363-1676_4661+839dup