Canonical Allele Identifier: CA002872

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55211
• ClinVar RCV Id: RCV000258317 ; RCV000585723
• dbSNP Id: rs397509181
• COSMIC: COSM69184
• MyVariant Identifiers: chr17:g.41228504del (hg19) ; chr17:g.43076487del (hg38)
• PubMed: PMID:10952777

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076488del , CM000679.2:g.43076488del	GRCh38
NC_000017.10:g.41228505del , CM000679.1:g.41228505del	GRCh37
NC_000017.9:g.38482031del	NCBI36
NG_005905.2:g.141497del , LRG_292:g.141497del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4481+1del
ENST00000470026.6:c.4484+1del
ENST00000473961.6:c.4358+1del
ENST00000476777.6:c.4478+1del
ENST00000477152.6:c.4406+1del
ENST00000478531.6:c.1172+1del
ENST00000489037.2:c.4406+1del
ENST00000493919.6:c.1034+1del
ENST00000494123.6:c.4484+1del
ENST00000497488.2:c.3596+1del
ENST00000618469.2:c.4484+1del
ENST00000634433.2:c.4361+1del
ENST00000644379.2:c.4550+1del
ENST00000644555.2:c.1034+1del
ENST00000652672.2:c.4343+1del
ENST00000484087.6:c.1046+1del
ENST00000700182.1:c.1091+1del
ENST00000357654.9:c.4484+1del
ENST00000471181.7:c.4547+1del
ENST00000644379.1:c.871+1del
ENST00000352993.7:c.1058+1del
ENST00000357654.7:c.4484+1del
ENST00000461221.5:c.*4267+1del
ENST00000468300.5:c.1172+1del
ENST00000471181.6:c.4547+1del
ENST00000478531.5:c.1172+1del
ENST00000484087.5:c.797+1del
ENST00000491747.6:c.1172+1del
ENST00000493795.5:c.4343+1del
ENST00000493919.5:c.1034+1del
ENST00000586385.5:c.5-12536del	ENSP00000465818.1:n.5-12536del
ENST00000591534.5:c.-43-1966del	ENSP00000467329.1:n.-43-1966del
ENST00000591849.5:c.-98-26297del	ENSP00000465347.1:n.-98-26297del
NM_007294.3:c.4484+1del , LRG_292t1:c.4484+1del
NM_007297.3:c.4343+1del
NM_007298.3:c.1172+1del
NM_007299.3:c.1172+1del
NM_007300.3:c.4547+1del
NR_027676.1:n.4620+1del
NM_007294.4:c.4484+1del
NM_007297.4:c.4343+1del
NM_007299.4:c.1172+1del
NM_007300.4:c.4547+1del
NR_027676.2:n.4661+1del