Canonical Allele Identifier: CA2838033039
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43054846_43062994del , CM000679.2:g.43054846_43062994del GRCh38
NC_000017.10:g.41206863_41215011del , CM000679.1:g.41206863_41215011del GRCh37
NC_000017.9:g.38460389_38468537del NCBI36
NG_005905.2:g.154990_163138del , LRG_292:g.154990_163138del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5190+339_5274+2206del
ENST00000470026.6:c.5193+339_5277+2206del
ENST00000473961.6:c.5067+339_5151+2206del
ENST00000476777.6:c.5187+339_5271+2206del
ENST00000477152.6:c.5115+339_5199+2206del
ENST00000478531.6:c.1881+339_1965+2206del
ENST00000489037.2:c.5115+339_5199+2206del
ENST00000493919.6:c.1743+339_1827+2206del
ENST00000494123.6:c.5193+339_5277+2206del
ENST00000497488.2:c.4305+339_4389+2206del
ENST00000618469.2:c.5193+339_5277+2206del
ENST00000634433.2:c.5070+339_5154+2206del
ENST00000644379.2:c.5259+339_5343+2206del
ENST00000644555.2:c.1743+339_1827+2206del
ENST00000652672.2:c.5052+339_5136+2206del
ENST00000484087.6:c.1755+339_1839+2206del
ENST00000357654.9:c.5193+339_5277+2206del
ENST00000471181.7:c.5256+339_5340+2206del
ENST00000644379.1:c.1580+339_1664+2206del
ENST00000352993.7:c.1767+339_1851+2206del
ENST00000357654.7:c.5193+339_5277+2206del
ENST00000461221.5:c.*4976+339_*5060+2206del
ENST00000468300.5:c.1881+339_1965+2206del
ENST00000471181.6:c.5256+339_5340+2206del
ENST00000491747.6:c.1881+339_1965+2206del
ENST00000493795.5:c.5052+339_5136+2206del
ENST00000586385.5:c.123+339_207+2206del
ENST00000591534.5:c.666+339_750+2206del
ENST00000591849.5:c.-98-12804_-98-4656del ENSP00000465347.1:n.-98-12804_-98-4656del
NM_007294.3:c.5193+339_5277+2206del , LRG_292t1:c.5193+339_5277+2206del
NM_007297.3:c.5052+339_5136+2206del
NM_007298.3:c.1881+339_1965+2206del
NM_007299.3:c.1881+339_1965+2206del
NM_007300.3:c.5256+339_5340+2206del
NR_027676.1:n.5329+339_5413+2206del
NM_007294.4:c.5193+339_5277+2206del
NM_007297.4:c.5052+339_5136+2206del
NM_007299.4:c.1881+339_1965+2206del
NM_007300.4:c.5256+339_5340+2206del
NR_027676.2:n.5370+339_5454+2206del