Canonical Allele Identifier: CA916084421
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063333_43063930del , CM000679.2:g.43063333_43063930del GRCh38
NC_000017.10:g.41215350_41215947del , CM000679.1:g.41215350_41215947del GRCh37
NC_000017.9:g.38468876_38469473del NCBI36
NG_005905.2:g.154055_154652del , LRG_292:g.154055_154652del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5094_5190+1del
ENST00000470026.6:c.5097_5193+1del
ENST00000473961.6:c.4971_5067+1del
ENST00000476777.6:c.5091_5187+1del
ENST00000477152.6:c.5019_5115+1del
ENST00000478531.6:c.1785_1881+1del
ENST00000489037.2:c.5019_5115+1del
ENST00000493919.6:c.1647_1743+1del
ENST00000494123.6:c.5097_5193+1del
ENST00000497488.2:c.4209_4305+1del
ENST00000618469.2:c.5097_5193+1del
ENST00000634433.2:c.4974_5070+1del
ENST00000644379.2:c.5163_5259+1del
ENST00000644555.2:c.1647_1743+1del
ENST00000652672.2:c.4956_5052+1del
ENST00000484087.6:c.1659_1755+1del
ENST00000357654.9:c.5097_5193+1del
ENST00000471181.7:c.5160_5256+1del
ENST00000644379.1:c.1484_1580+1del
ENST00000352993.7:c.1671_1767+1del
ENST00000357654.7:c.5097_5193+1del
ENST00000461221.5:c.*4880_*4976+1del
ENST00000468300.5:c.1785_1881+1del
ENST00000471181.6:c.5160_5256+1del
ENST00000491747.6:c.1785_1881+1del
ENST00000493795.5:c.4956_5052+1del
ENST00000586385.5:c.27_123+1del
ENST00000591534.5:c.570_666+1del
ENST00000591849.5:c.-98-13739_-98-13142del ENSP00000465347.1:n.-98-13739_-98-13142de...
NM_007294.3:c.5097_5193+1del , LRG_292t1:c.5097_5193+1del
NM_007297.3:c.4956_5052+1del
NM_007298.3:c.1785_1881+1del
NM_007299.3:c.1785_1881+1del
NM_007300.3:c.5160_5256+1del
NR_027676.1:n.5233_5329+1del
NM_007294.4:c.5097_5193+1del
NM_007297.4:c.4956_5052+1del
NM_007299.4:c.1785_1881+1del
NM_007300.4:c.5160_5256+1del
NR_027676.2:n.5274_5370+1del