Canonical Allele Identifier: CA1139665560

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 989416
• ClinVar RCV Id: RCV001270973

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43052946_43059974del , CM000679.2:g.43052946_43059974del	GRCh38
NC_000017.10:g.41204963_41211991del , CM000679.1:g.41204963_41211991del	GRCh37
NC_000017.9:g.38458489_38465517del	NCBI36
NG_005905.2:g.158015_165043del , LRG_292:g.158015_165043del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5191-2834_5275-1824del
ENST00000470026.6:c.5194-2834_5278-1824del
ENST00000473961.6:c.5068-2834_5152-1824del
ENST00000476777.6:c.5188-2834_5272-1824del
ENST00000477152.6:c.5116-2834_5200-1824del
ENST00000478531.6:c.1882-2834_1966-1824del
ENST00000489037.2:c.5116-2834_5200-1824del
ENST00000493919.6:c.1744-2834_1828-1824del
ENST00000494123.6:c.5194-2834_5278-1824del
ENST00000497488.2:c.4306-2834_4390-1824del
ENST00000618469.2:c.5194-2834_5278-1824del
ENST00000634433.2:c.5071-2834_5155-1824del
ENST00000644379.2:c.5260-2834_5344-1824del
ENST00000644555.2:c.1744-2834_1828-1824del
ENST00000652672.2:c.5053-2834_5137-1824del
ENST00000484087.6:c.1756-2834_1840-1824del
ENST00000357654.9:c.5194-2834_5278-1824del
ENST00000471181.7:c.5257-2834_5341-1824del
ENST00000644379.1:c.1581-2834_1665-1824del
ENST00000352993.7:c.1768-2834_1852-1824del
ENST00000357654.7:c.5194-2834_5278-1824del
ENST00000461221.5:c.*4977-2834_*5061-1824del
ENST00000468300.5:c.1882-2834_1966-1824del
ENST00000471181.6:c.5257-2834_5341-1824del
ENST00000491747.6:c.1882-2834_1966-1824del
ENST00000493795.5:c.5053-2834_5137-1824del
ENST00000586385.5:c.124-2834_208-1824del
ENST00000591534.5:c.667-2834_751-1824del
ENST00000591849.5:c.-98-9779_-98-2751del	ENSP00000465347.1:n.-98-9779_-98-2751del
NM_007294.3:c.5194-2834_5278-1824del , LRG_292t1:c.5194-2834_5278-1824del
NM_007297.3:c.5053-2834_5137-1824del
NM_007298.3:c.1882-2834_1966-1824del
NM_007299.3:c.1882-2834_1966-1824del
NM_007300.3:c.5257-2834_5341-1824del
NR_027676.1:n.5330-2834_5414-1824del
NM_007294.4:c.5194-2834_5278-1824del
NM_007297.4:c.5053-2834_5137-1824del
NM_007299.4:c.1882-2834_1966-1824del
NM_007300.4:c.5257-2834_5341-1824del
NR_027676.2:n.5371-2834_5455-1824del