Canonical Allele Identifier: CA2581463413
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43079254_43082669dup , CM000679.2:g.43079254_43082669dup GRCh38
NC_000017.10:g.41231271_41234686dup , CM000679.1:g.41231271_41234686dup GRCh37
NC_000017.9:g.38484797_38488212dup NCBI36
NG_005905.2:g.135316_138731dup , LRG_292:g.135316_138731dup

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4186-93_4358-2642dup
ENST00000470026.6:c.4186-93_4358-2639dup
ENST00000473961.6:c.4060-93_4232-2639dup
ENST00000476777.6:c.4183-96_4352-2639dup
ENST00000477152.6:c.4108-93_4280-2639dup
ENST00000478531.6:c.874-93_1046-2639dup
ENST00000489037.2:c.4108-93_4280-2639dup
ENST00000493919.6:c.736-93_908-2639dup
ENST00000494123.6:c.4186-93_4358-2639dup
ENST00000497488.2:c.3298-93_3470-2639dup
ENST00000618469.2:c.4186-93_4358-2639dup
ENST00000634433.2:c.4063-93_4235-2639dup
ENST00000644379.2:c.4186-93_4423+81dup
ENST00000644555.2:c.736-93_908-2639dup
ENST00000652672.2:c.4045-93_4217-2639dup
ENST00000484087.6:c.754-96_923-2642dup
ENST00000700182.1:c.796-93_968-2642dup
ENST00000357654.9:c.4186-93_4358-2639dup
ENST00000471181.7:c.4186-93_4423+81dup
ENST00000644379.1:c.507-93_744+81dup
ENST00000352993.7:c.760-93_932-2639dup
ENST00000357654.7:c.4186-93_4358-2639dup
ENST00000461221.5:c.*3969-93_*4141-2639dup
ENST00000461574.1:c.480-93_652-2642dup
ENST00000468300.5:c.877-93_1049-2642dup
ENST00000471181.6:c.4186-93_4423+81dup
ENST00000478531.5:c.874-93_1046-2639dup
ENST00000484087.5:c.499-93_671-2639dup
ENST00000487825.5:c.502-93_674-2639dup
ENST00000491747.6:c.877-93_1049-2642dup
ENST00000493795.5:c.4045-93_4217-2639dup
ENST00000493919.5:c.736-93_908-2639dup
ENST00000586385.5:c.5-18717_5-15302dup ENSP00000465818.1:n.5-18717_5-15302dup
ENST00000591534.5:c.-43-8147_-43-4732dup ENSP00000467329.1:n.-43-8147_-43-4732dup
ENST00000591849.5:c.-98-32478_-98-29063dup ENSP00000465347.1:n.-98-32478_-98-29063du...
ENST00000621897.1:n.79+14_252-2642dup
NM_007294.3:c.4186-93_4358-2639dup , LRG_292t1:c.4186-93_4358-2639dup
NM_007297.3:c.4045-93_4217-2639dup
NM_007298.3:c.877-93_1049-2642dup
NM_007299.3:c.877-93_1049-2642dup
NM_007300.3:c.4186-93_4423+81dup
NR_027676.1:n.4322-93_4494-2639dup
NM_007294.4:c.4186-93_4358-2639dup
NM_007297.4:c.4045-93_4217-2639dup
NM_007299.4:c.877-93_1049-2642dup
NM_007300.4:c.4186-93_4423+81dup
NR_027676.2:n.4363-93_4535-2639dup