Canonical Allele Identifier: CA2843744560
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43045012_43053090del , CM000679.2:g.43045012_43053090del GRCh38
NC_000017.10:g.41197029_41205107del , CM000679.1:g.41197029_41205107del GRCh37
NC_000017.9:g.38450555_38458633del NCBI36
NG_005905.2:g.164897_172975del , LRG_292:g.164897_172975del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5275-1970_*669del
ENST00000470026.6:c.5278-1970_*669del
ENST00000473961.6:c.5152-1970_*669del
ENST00000476777.6:c.5272-1970_*669del
ENST00000477152.6:c.5200-1970_*669del
ENST00000478531.6:c.1966-1970_*669del
ENST00000489037.2:c.5200-1970_*669del
ENST00000493919.6:c.1828-1970_*669del
ENST00000494123.6:c.5278-1970_*669del
ENST00000497488.2:c.4390-1970_*669del
ENST00000618469.2:c.5278-1970_*669del
ENST00000634433.2:c.5155-1970_*669del
ENST00000644555.2:c.1828-1970_*669del
ENST00000652672.2:c.5137-1970_*669del
ENST00000357654.9:c.5278-1970_*669del
ENST00000471181.7:c.5341-1970_*669del
ENST00000352993.7:c.1852-1970_*669del
ENST00000357654.7:c.5278-1970_*669del
ENST00000468300.5:c.1966-1970_*775del
NM_007294.3:c.5278-1970_*669del , LRG_292t1:c.5278-1970_*669del
NM_007297.3:c.5137-1970_*669del
NM_007298.3:c.1966-1970_*669del
NM_007299.3:c.1966-1970_*775del
NM_007300.3:c.5341-1970_*669del
NR_027676.1:n.5414-1970_6397del
NM_007294.4:c.5278-1970_*669del
NM_007297.4:c.5137-1970_*669del
NM_007299.4:c.1966-1970_*775del
NM_007300.4:c.5341-1970_*669del
NR_027676.2:n.5455-1970_6438del