Canonical Allele Identifier: CA919844142
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43045796_43045803dup , CM000679.2:g.43045796_43045803dup GRCh38
NC_000017.10:g.41197813_41197820dup , CM000679.1:g.41197813_41197820dup GRCh37
NC_000017.9:g.38451339_38451346dup NCBI36
NG_005905.2:g.172184_172191dup , LRG_292:g.172184_172191dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5467_5474dup
ENST00000470026.6:c.5470_5477dup
ENST00000473961.6:c.5344_5351dup
ENST00000476777.6:c.5464_5471dup
ENST00000477152.6:c.5392_5399dup
ENST00000478531.6:c.2158_2165dup
ENST00000489037.2:c.5392_5399dup
ENST00000493919.6:c.2020_2027dup
ENST00000494123.6:c.5470_5477dup
ENST00000497488.2:c.4582_4589dup
ENST00000618469.2:c.5470_5477dup
ENST00000634433.2:c.5347_5354dup
ENST00000644379.2:c.5536_5543dup
ENST00000644555.2:c.2020_2027dup
ENST00000652672.2:c.5329_5336dup
ENST00000484087.6:c.2032_2039dup
ENST00000700081.1:n.1353_1360dup
ENST00000700082.1:n.834_841dup
ENST00000357654.9:c.5470_5477dup
ENST00000471181.7:c.5533_5540dup
ENST00000644379.1:c.1857_1864dup
ENST00000352993.7:c.2044_2051dup
ENST00000357654.7:c.5470_5477dup
ENST00000461221.5:c.*5253_*5260dup
ENST00000468300.5:c.2084_2091dup
ENST00000471181.6:c.5533_5540dup
ENST00000491747.6:c.2158_2165dup
ENST00000493795.5:c.5329_5336dup
ENST00000586385.5:c.400_407dup
ENST00000591534.5:c.943_950dup
ENST00000591849.5:c.169_176dup
NM_007294.3:c.5470_5477dup , LRG_292t1:c.5470_5477dup
NM_007297.3:c.5329_5336dup
NM_007298.3:c.2158_2165dup
NM_007299.3:c.2084_2091dup
NM_007300.3:c.5533_5540dup
NR_027676.1:n.5606_5613dup
NM_007294.4:c.5470_5477dup
NM_007297.4:c.5329_5336dup
NM_007299.4:c.2084_2091dup
NM_007300.4:c.5533_5540dup
NR_027676.2:n.5647_5654dup