Canonical Allele Identifier: CA658655494
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 993170
ClinVar RCV Id: RCV001284404

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43082407_43082578dup , CM000679.2:g.43082407_43082578dup GRCh38
NC_000017.10:g.41234424_41234595dup , CM000679.1:g.41234424_41234595dup GRCh37
NC_000017.9:g.38487950_38488121dup NCBI36
NG_005905.2:g.135409_135580dup , LRG_292:g.135409_135580dup

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4186_4357dup
ENST00000470026.6:c.4186_4357dup
ENST00000473961.6:c.4060_4231dup
ENST00000476777.6:c.4183-3_4351dup
ENST00000477152.6:c.4108_4279dup
ENST00000478531.6:c.874_1045dup
ENST00000489037.2:c.4108_4279dup
ENST00000493919.6:c.736_907dup
ENST00000494123.6:c.4186_4357dup
ENST00000497488.2:c.3298_3469dup
ENST00000618469.2:c.4186_4357dup
ENST00000634433.2:c.4063_4234dup
ENST00000644379.2:c.4186_4357dup
ENST00000644555.2:c.736_907dup
ENST00000652672.2:c.4045_4216dup
ENST00000484087.6:c.754-3_922dup
ENST00000700182.1:c.796_967dup
ENST00000357654.9:c.4186_4357dup
ENST00000471181.7:c.4186_4357dup
ENST00000644379.1:c.507_678dup
ENST00000352993.7:c.760_931dup
ENST00000357654.7:c.4186_4357dup
ENST00000461221.5:c.*3969_*4140dup
ENST00000461574.1:c.480_651dup
ENST00000468300.5:c.877_1048dup
ENST00000471181.6:c.4186_4357dup
ENST00000478531.5:c.874_1045dup
ENST00000484087.5:c.499_670dup
ENST00000487825.5:c.502_673dup
ENST00000491747.6:c.877_1048dup
ENST00000493795.5:c.4045_4216dup
ENST00000493919.5:c.736_907dup
ENST00000586385.5:c.5-18624_5-18453dup ENSP00000465818.1:n.5-18624_5-18453dup
ENST00000591534.5:c.-43-8054_-43-7883dup ENSP00000467329.1:n.-43-8054_-43-7883dup
ENST00000591849.5:c.-98-32385_-98-32214dup ENSP00000465347.1:n.-98-32385_-98-32214du...
ENST00000621897.1:n.80_251dup
NM_007294.3:c.4186_4357dup , LRG_292t1:c.4186_4357dup
NM_007297.3:c.4045_4216dup
NM_007298.3:c.877_1048dup
NM_007299.3:c.877_1048dup
NM_007300.3:c.4186_4357dup
NR_027676.1:n.4322_4493dup
NM_007294.4:c.4186_4357dup
NM_007297.4:c.4045_4216dup
NM_007299.4:c.877_1048dup
NM_007300.4:c.4186_4357dup
NR_027676.2:n.4363_4534dup