Canonical Allele Identifier: CA10602575

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 267586
• ClinVar RCV Id: RCV000258393
• MyVariant Identifiers: chr17:g.41205431_41209604del (hg19) ; chr17:g.43053414_43057587del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43053415_43057588del , CM000679.2:g.43053415_43057588del	GRCh38
NC_000017.10:g.41205432_41209605del , CM000679.1:g.41205432_41209605del	GRCh37
NC_000017.9:g.38458958_38463131del	NCBI36
NG_005905.2:g.160397_164570del , LRG_292:g.160397_164570del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5191-452_5275-2297del
ENST00000470026.6:c.5194-452_5278-2297del
ENST00000473961.6:c.5068-452_5152-2297del
ENST00000476777.6:c.5188-452_5272-2297del
ENST00000477152.6:c.5116-452_5200-2297del
ENST00000478531.6:c.1882-452_1966-2297del
ENST00000489037.2:c.5116-452_5200-2297del
ENST00000493919.6:c.1744-452_1828-2297del
ENST00000494123.6:c.5194-452_5278-2297del
ENST00000497488.2:c.4306-452_4390-2297del
ENST00000618469.2:c.5194-452_5278-2297del
ENST00000634433.2:c.5071-452_5155-2297del
ENST00000644379.2:c.5260-452_5344-2297del
ENST00000644555.2:c.1744-452_1828-2297del
ENST00000652672.2:c.5053-452_5137-2297del
ENST00000484087.6:c.1756-452_1840-2297del
ENST00000357654.9:c.5194-452_5278-2297del
ENST00000471181.7:c.5257-452_5341-2297del
ENST00000644379.1:c.1581-452_1665-2297del
ENST00000352993.7:c.1768-452_1852-2297del
ENST00000357654.7:c.5194-452_5278-2297del
ENST00000461221.5:c.*4977-452_*5061-2297del
ENST00000468300.5:c.1882-452_1966-2297del
ENST00000471181.6:c.5257-452_5341-2297del
ENST00000491747.6:c.1882-452_1966-2297del
ENST00000493795.5:c.5053-452_5137-2297del
ENST00000586385.5:c.124-452_208-2297del
ENST00000591534.5:c.667-452_751-2297del
ENST00000591849.5:c.-98-7397_-98-3224del	ENSP00000465347.1:n.-98-7397_-98-3224del
NM_007294.3:c.5194-452_5278-2297del , LRG_292t1:c.5194-452_5278-2297del
NM_007297.3:c.5053-452_5137-2297del
NM_007298.3:c.1882-452_1966-2297del
NM_007299.3:c.1882-452_1966-2297del
NM_007300.3:c.5257-452_5341-2297del
NR_027676.1:n.5330-452_5414-2297del
NM_007294.4:c.5194-452_5278-2297del
NM_007297.4:c.5053-452_5137-2297del
NM_007299.4:c.1882-452_1966-2297del
NM_007300.4:c.5257-452_5341-2297del
NR_027676.2:n.5371-452_5455-2297del