Canonical Allele Identifier: CA2580618250
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091633_43094861del , CM000679.2:g.43091633_43094861del GRCh38
NC_000017.10:g.41243650_41246878del , CM000679.1:g.41243650_41246878del GRCh37
NC_000017.9:g.38497176_38500404del NCBI36
NG_005905.2:g.123125_126353del , LRG_292:g.123125_126353del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.736_3964del
ENST00000461574.2:c.672_3900del
ENST00000470026.6:c.672_3900del
ENST00000473961.6:c.546_3774del
ENST00000476777.6:c.669_3897del
ENST00000477152.6:c.594_3822del
ENST00000478531.6:c.669_785-599del
ENST00000489037.2:c.594_3822del
ENST00000493919.6:c.531_647-599del
ENST00000494123.6:c.672_3900del
ENST00000497488.2:c.-217_3012del
ENST00000618469.2:c.672_3900del
ENST00000634433.2:c.549_3777del
ENST00000644379.2:c.672_3900del
ENST00000644555.2:c.531_647-599del
ENST00000652672.2:c.531_3759del
ENST00000484087.6:c.549_665-599del
ENST00000700182.1:c.591_707-599del
ENST00000357654.9:c.672_3900del
ENST00000471181.7:c.672_3900del
ENST00000352993.7:c.670+987_671-599del ENSP00000312236.5:n.670+987_671-599del
ENST00000354071.7:c.672_3900del
ENST00000357654.7:c.672_3900del
ENST00000461221.5:c.*455_*3683del
ENST00000468300.5:c.672_788-599del
ENST00000471181.6:c.672_3900del
ENST00000478531.5:c.669_785-599del
ENST00000484087.5:c.294_410-599del
ENST00000487825.5:c.297_413-599del
ENST00000491747.6:c.672_788-599del
ENST00000493795.5:c.531_3759del
ENST00000493919.5:c.531_647-599del
ENST00000586385.5:c.4+30323_5-27680del ENSP00000465818.1:n.4+30323_5-27680del
ENST00000591534.5:c.-43-20338_-43-17110del ENSP00000467329.1:n.-43-20338_-43-17110de...
ENST00000591849.5:c.-99+30412_-99+33640del ENSP00000465347.1:n.-99+30412_-99+33640de...
NM_007294.3:c.672_3900del , LRG_292t1:c.672_3900del
NM_007297.3:c.531_3759del
NM_007298.3:c.672_788-599del
NM_007299.3:c.672_788-599del
NM_007300.3:c.672_3900del
NR_027676.1:n.808_4036del
NM_007294.4:c.672_3900del
NM_007297.4:c.531_3759del
NM_007299.4:c.672_788-599del
NM_007300.4:c.672_3900del
NR_027676.2:n.849_4077del