Canonical Allele Identifier: CA2832529125
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091434_43093434del , CM000679.2:g.43091434_43093434del GRCh38
NC_000017.10:g.41243451_41245451del , CM000679.1:g.41243451_41245451del GRCh37
NC_000017.9:g.38496977_38498977del NCBI36
NG_005905.2:g.124550_126550del , LRG_292:g.124550_126550del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.2161_4161del
ENST00000461574.2:c.2097_4096+1del
ENST00000470026.6:c.2097_4096+1del
ENST00000473961.6:c.1971_3970+1del
ENST00000476777.6:c.2094_4093+1del
ENST00000477152.6:c.2019_4018+1del
ENST00000478531.6:c.784+1310_785-402del ENSP00000420412.2:n.784+1310_785-402del
ENST00000489037.2:c.2019_4018+1del
ENST00000493919.6:c.646+1310_647-402del ENSP00000418819.2:n.646+1310_647-402del
ENST00000494123.6:c.2097_4096+1del
ENST00000497488.2:c.1209_3208+1del
ENST00000618469.2:c.2097_4096+1del
ENST00000634433.2:c.1974_3973+1del
ENST00000644379.2:c.2097_4096+1del
ENST00000644555.2:c.646+1310_647-402del ENSP00000494614.2:n.646+1310_647-402del
ENST00000652672.2:c.1956_3955+1del
ENST00000484087.6:c.664+1310_665-402del ENSP00000419481.2:n.664+1310_665-402del
ENST00000700182.1:c.706+1310_707-402del ENSP00000514849.1:n.706+1310_707-402del
ENST00000357654.9:c.2097_4096+1del
ENST00000471181.7:c.2097_4096+1del
ENST00000352993.7:c.671-2402_671-402del ENSP00000312236.5:n.671-2402_671-402del
ENST00000354071.7:c.2097_4097del ENSP00000326002.7:p.Glu699_Gly1366delinsAsp
ENST00000357654.7:c.2097_4096+1del
ENST00000461221.5:c.*1880_*3879+1del
ENST00000468300.5:c.787+1310_788-402del ENSP00000417148.1:n.787+1310_788-402del
ENST00000471181.6:c.2097_4096+1del
ENST00000478531.5:c.784+1310_785-402del ENSP00000420412.1:n.784+1310_785-402del
ENST00000484087.5:c.409+1310_410-402del ENSP00000419481.1:n.409+1310_410-402del
ENST00000487825.5:c.412+1310_413-402del ENSP00000418212.1:n.412+1310_413-402del
ENST00000491747.6:c.787+1310_788-402del ENSP00000420705.2:n.787+1310_788-402del
ENST00000493795.5:c.1956_3955+1del
ENST00000493919.5:c.646+1310_647-402del ENSP00000418819.1:n.646+1310_647-402del
ENST00000586385.5:c.5-29483_5-27483del ENSP00000465818.1:n.5-29483_5-27483del
ENST00000591534.5:c.-43-18913_-43-16913del ENSP00000467329.1:n.-43-18913_-43-16913del
ENST00000591849.5:c.-99+31837_-99+33837del ENSP00000465347.1:n.-99+31837_-99+33837del
NM_007294.3:c.2097_4096+1del , LRG_292t1:c.2097_4096+1del
NM_007297.3:c.1956_3955+1del
NM_007298.3:c.787+1310_788-402del NP_009229.2:n.787+1310_788-402del
NM_007299.3:c.787+1310_788-402del NP_009230.2:n.787+1310_788-402del
NM_007300.3:c.2097_4096+1del
NR_027676.1:n.2233_4232+1del
NM_007294.4:c.2097_4096+1del
NM_007297.4:c.1956_3955+1del
NM_007299.4:c.787+1310_788-402del NP_009230.2:n.787+1310_788-402del
NM_007300.4:c.2097_4096+1del
NR_027676.2:n.2274_4273+1del