Canonical Allele Identifier: CA2638062425
Gene: BRCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091425_43091430del , CM000679.2:g.43091425_43091430del GRCh38
NC_000017.10:g.41243442_41243447del , CM000679.1:g.41243442_41243447del GRCh37
NC_000017.9:g.38496968_38496973del NCBI36
NG_005905.2:g.126554_126559del , LRG_292:g.126554_126559del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4165_4170del
ENST00000461574.2:c.4096+5_4096+10del ENSP00000417241.2:n.4096+5_4096+10del
ENST00000470026.6:c.4096+5_4096+10del ENSP00000419274.2:n.4096+5_4096+10del
ENST00000473961.6:c.3970+5_3970+10del ENSP00000420201.2:n.3970+5_3970+10del
ENST00000476777.6:c.4093+5_4093+10del ENSP00000417554.2:n.4093+5_4093+10del
ENST00000477152.6:c.4018+5_4018+10del ENSP00000419988.2:n.4018+5_4018+10del
ENST00000478531.6:c.785-398_785-393del ENSP00000420412.2:n.785-398_785-393del
ENST00000489037.2:c.4018+5_4018+10del ENSP00000420781.2:n.4018+5_4018+10del
ENST00000493919.6:c.647-398_647-393del ENSP00000418819.2:n.647-398_647-393del
ENST00000494123.6:c.4096+5_4096+10del ENSP00000419103.2:n.4096+5_4096+10del
ENST00000497488.2:c.3208+5_3208+10del ENSP00000418986.2:n.3208+5_3208+10del
ENST00000618469.2:c.4096+5_4096+10del ENSP00000478114.2:n.4096+5_4096+10del
ENST00000634433.2:c.3973+5_3973+10del ENSP00000489431.2:n.3973+5_3973+10del
ENST00000644379.2:c.4096+5_4096+10del ENSP00000496570.2:n.4096+5_4096+10del
ENST00000644555.2:c.647-398_647-393del ENSP00000494614.2:n.647-398_647-393del
ENST00000652672.2:c.3955+5_3955+10del ENSP00000498906.2:n.3955+5_3955+10del
ENST00000484087.6:c.665-398_665-393del ENSP00000419481.2:n.665-398_665-393del
ENST00000700182.1:c.707-398_707-393del ENSP00000514849.1:n.707-398_707-393del
ENST00000357654.9:c.4096+5_4096+10del MANE Select ENSP00000350283.3:n.4096+5_4096+10del
ENST00000471181.7:c.4096+5_4096+10del ENSP00000418960.2:n.4096+5_4096+10del
ENST00000644379.1:c.417+5_417+10del
ENST00000352993.7:c.671-398_671-393del ENSP00000312236.5:n.671-398_671-393del
ENST00000354071.7:c.4101_4106del ENSP00000326002.7:p.Gly1368_Thr1369del
ENST00000357654.7:c.4096+5_4096+10del ENSP00000350283.3:n.4096+5_4096+10del
ENST00000461221.5:c.*3879+5_*3879+10del ENSP00000418548.1:n.*3879+5_*3879+10del
ENST00000461574.1:c.390+5_390+10del
ENST00000468300.5:c.788-398_788-393del ENSP00000417148.1:n.788-398_788-393del
ENST00000471181.6:c.4096+5_4096+10del ENSP00000418960.2:n.4096+5_4096+10del
ENST00000478531.5:c.785-398_785-393del ENSP00000420412.1:n.785-398_785-393del
ENST00000484087.5:c.410-398_410-393del ENSP00000419481.1:n.410-398_410-393del
ENST00000487825.5:c.413-398_413-393del ENSP00000418212.1:n.413-398_413-393del
ENST00000491747.6:c.788-398_788-393del ENSP00000420705.2:n.788-398_788-393del
ENST00000493795.5:c.3955+5_3955+10del ENSP00000418775.1:n.3955+5_3955+10del
ENST00000493919.5:c.647-398_647-393del ENSP00000418819.1:n.647-398_647-393del
ENST00000586385.5:c.5-27479_5-27474del ENSP00000465818.1:n.5-27479_5-27474del
ENST00000591534.5:c.-43-16909_-43-16904del ENSP00000467329.1:n.-43-16909_-43-16904del
ENST00000591849.5:c.-99+33841_-99+33846del ENSP00000465347.1:n.-99+33841_-99+33846del
NM_007294.3:c.4096+5_4096+10del , LRG_292t1:c.4096+5_4096+10del NP_009225.1:n.4096+5_4096+10del
NM_007297.3:c.3955+5_3955+10del NP_009228.2:n.3955+5_3955+10del
NM_007298.3:c.788-398_788-393del NP_009229.2:n.788-398_788-393del
NM_007299.3:c.788-398_788-393del NP_009230.2:n.788-398_788-393del
NM_007300.3:c.4096+5_4096+10del NP_009231.2:n.4096+5_4096+10del
NR_027676.1:n.4232+5_4232+10del
NM_007294.4:c.4096+5_4096+10del MANE Select NP_009225.1:n.4096+5_4096+10del
NM_007297.4:c.3955+5_3955+10del NP_009228.2:n.3955+5_3955+10del
NM_007299.4:c.788-398_788-393del NP_009230.2:n.788-398_788-393del
NM_007300.4:c.4096+5_4096+10del NP_009231.2:n.4096+5_4096+10del
NR_027676.2:n.4273+5_4273+10del