Canonical Allele Identifier: CA2580618251
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091437_43094862del , CM000679.2:g.43091437_43094862del GRCh38
NC_000017.10:g.41243454_41246879del , CM000679.1:g.41243454_41246879del GRCh37
NC_000017.9:g.38496980_38500405del NCBI36
NG_005905.2:g.123124_126549del , LRG_292:g.123124_126549del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.735_4160del
ENST00000461574.2:c.671_4096del
ENST00000470026.6:c.671_4096del
ENST00000473961.6:c.545_3970del
ENST00000476777.6:c.668_4093del
ENST00000477152.6:c.593_4018del
ENST00000478531.6:c.668_785-403del
ENST00000489037.2:c.593_4018del
ENST00000493919.6:c.530_647-403del
ENST00000494123.6:c.671_4096del
ENST00000497488.2:c.-218_3208del
ENST00000618469.2:c.671_4096del
ENST00000634433.2:c.548_3973del
ENST00000644379.2:c.671_4096del
ENST00000644555.2:c.530_647-403del
ENST00000652672.2:c.530_3955del
ENST00000484087.6:c.548_665-403del
ENST00000700182.1:c.590_707-403del
ENST00000357654.9:c.671_4096del
ENST00000471181.7:c.671_4096del
ENST00000352993.7:c.670+986_671-403del ENSP00000312236.5:n.670+986_671-403del
ENST00000354071.7:c.671_4096del
ENST00000357654.7:c.671_4096del
ENST00000461221.5:c.*454_*3879del
ENST00000468300.5:c.671_788-403del
ENST00000471181.6:c.671_4096del
ENST00000478531.5:c.668_785-403del
ENST00000484087.5:c.293_410-403del
ENST00000487825.5:c.296_413-403del
ENST00000491747.6:c.671_788-403del
ENST00000493795.5:c.530_3955del
ENST00000493919.5:c.530_647-403del
ENST00000586385.5:c.4+30322_5-27484del ENSP00000465818.1:n.4+30322_5-27484del
ENST00000591534.5:c.-43-20339_-43-16914del ENSP00000467329.1:n.-43-20339_-43-16914de...
ENST00000591849.5:c.-99+30411_-99+33836del ENSP00000465347.1:n.-99+30411_-99+33836de...
NM_007294.3:c.671_4096del , LRG_292t1:c.671_4096del
NM_007297.3:c.530_3955del
NM_007298.3:c.671_788-403del
NM_007299.3:c.671_788-403del
NM_007300.3:c.671_4096del
NR_027676.1:n.807_4232del
NM_007294.4:c.671_4096del
NM_007297.4:c.530_3955del
NM_007299.4:c.671_788-403del
NM_007300.4:c.671_4096del
NR_027676.2:n.848_4273del