Canonical Allele Identifier: CA003335
Community Standard Title: NC_000017.11:g.43063333del
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063333del , CM000679.2:g.43063333del GRCh38
NC_000017.10:g.41215350del , CM000679.1:g.41215350del GRCh37
NC_000017.9:g.38468876del NCBI36
NG_005905.2:g.154652del , LRG_292:g.154652del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.3:c.5193+1del , LRG_292t1:c.5193+1del
NM_007294.4:c.5193+1del
NM_007297.3:c.5052+1del
NM_007297.4:c.5052+1del
NM_007298.3:c.1881+1del
NM_007299.3:c.1881+1del
NM_007299.4:c.1881+1del
NM_007300.3:c.5256+1del
NM_007300.4:c.5256+1del
NR_027676.1:n.5329+1del
NR_027676.2:n.5370+1del
ENST00000352993.7:c.1767+1del
ENST00000357654.7:c.5193+1del
ENST00000357654.9:c.5193+1del
ENST00000461221.5:c.*4976+1del
ENST00000461574.2:c.5190+1del
ENST00000468300.5:c.1881+1del
ENST00000470026.6:c.5193+1del
ENST00000471181.6:c.5256+1del
ENST00000471181.7:c.5256+1del
ENST00000473961.6:c.5067+1del
ENST00000476777.6:c.5187+1del
ENST00000477152.6:c.5115+1del
ENST00000478531.6:c.1881+1del
ENST00000484087.6:c.1755+1del
ENST00000489037.2:c.5115+1del
ENST00000491747.6:c.1881+1del
ENST00000493795.5:c.5052+1del
ENST00000493919.6:c.1743+1del
ENST00000494123.6:c.5193+1del
ENST00000497488.2:c.4305+1del
ENST00000586385.5:c.123+1del
ENST00000591534.5:c.666+1del
ENST00000591849.5:c.-98-13142del ENSP00000465347.1:n.-98-13142del
ENST00000618469.2:c.5193+1del
ENST00000634433.2:c.5070+1del
ENST00000644379.1:c.1580+1del
ENST00000644379.2:c.5259+1del
ENST00000644555.2:c.1743+1del
ENST00000652672.2:c.5052+1del