Canonical Allele Identifier: CA16615648
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 125810
dbSNP Id: rs1060502356

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43057050_43057055del , CM000679.2:g.43057050_43057055del GRCh38
NC_000017.10:g.41209067_41209072del , CM000679.1:g.41209067_41209072del GRCh37
NC_000017.9:g.38462593_38462598del NCBI36
NG_005905.2:g.160933_160938del , LRG_292:g.160933_160938del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5274+1_5274+6del
ENST00000470026.6:c.5277+1_5277+6del
ENST00000473961.6:c.5151+1_5151+6del
ENST00000476777.6:c.5271+1_5271+6del
ENST00000477152.6:c.5199+1_5199+6del
ENST00000478531.6:c.1965+1_1965+6del
ENST00000489037.2:c.5199+1_5199+6del
ENST00000493919.6:c.1827+1_1827+6del
ENST00000494123.6:c.5277+1_5277+6del
ENST00000497488.2:c.4389+1_4389+6del
ENST00000618469.2:c.5277+1_5277+6del
ENST00000634433.2:c.5154+1_5154+6del
ENST00000644379.2:c.5343+1_5343+6del
ENST00000644555.2:c.1827+1_1827+6del
ENST00000652672.2:c.5136+1_5136+6del
ENST00000484087.6:c.1839+1_1839+6del
ENST00000357654.9:c.5277+1_5277+6del
ENST00000471181.7:c.5340+1_5340+6del
ENST00000644379.1:c.1664+1_1664+6del
ENST00000352993.7:c.1851+1_1851+6del
ENST00000357654.7:c.5277+1_5277+6del
ENST00000461221.5:c.*5060+1_*5060+6del
ENST00000468300.5:c.1965+1_1965+6del
ENST00000471181.6:c.5340+1_5340+6del
ENST00000491747.6:c.1965+1_1965+6del
ENST00000493795.5:c.5136+1_5136+6del
ENST00000586385.5:c.207+1_207+6del
ENST00000591534.5:c.750+1_750+6del
ENST00000591849.5:c.-98-6861_-98-6856del ENSP00000465347.1:n.-98-6861_-98-6856del
NM_007294.3:c.5277+1_5277+6del , LRG_292t1:c.5277+1_5277+6del
NM_007297.3:c.5136+1_5136+6del
NM_007298.3:c.1965+1_1965+6del
NM_007299.3:c.1965+1_1965+6del
NM_007300.3:c.5340+1_5340+6del
NR_027676.1:n.5413+1_5413+6del
NM_007294.4:c.5277+1_5277+6del
NM_007297.4:c.5136+1_5136+6del
NM_007299.4:c.1965+1_1965+6del
NM_007300.4:c.5340+1_5340+6del
NR_027676.2:n.5454+1_5454+6del