Canonical Allele Identifier: CA276117

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 209105
• ClinVar RCV Id: RCV000191042 ; RCV000258289 ; RCV000585825 ; RCV001024704
• dbSNP Id: rs797045175
• MyVariant Identifiers: chr17:g.41247936_41247939del (hg19) ; chr17:g.43095919_43095922del (hg38)
• PubMed: PMID:25472942

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43095920_43095923del , CM000679.2:g.43095920_43095923del	GRCh38
NC_000017.10:g.41247937_41247940del , CM000679.1:g.41247937_41247940del	GRCh37
NC_000017.9:g.38501463_38501466del	NCBI36
NG_005905.2:g.122062_122065del , LRG_292:g.122062_122065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.658_661del
ENST00000461574.2:c.594_597del
ENST00000470026.6:c.594_597del
ENST00000473961.6:c.545-1062_545-1059del	ENSP00000420201.2:n.545-1062_545-1059del
ENST00000476777.6:c.591_594del
ENST00000477152.6:c.516_519del
ENST00000478531.6:c.591_594del
ENST00000489037.2:c.516_519del
ENST00000493919.6:c.453_456del
ENST00000494123.6:c.594_597del
ENST00000497488.2:c.-218-1062_-218-1059del	ENSP00000418986.2:n.-218-1062_-218-1059del
ENST00000618469.2:c.594_597del
ENST00000634433.2:c.548-1062_548-1059del	ENSP00000489431.2:n.548-1062_548-1059del
ENST00000644379.2:c.594_597del
ENST00000644555.2:c.453_456del
ENST00000652672.2:c.453_456del
ENST00000484087.6:c.548-1062_548-1059del	ENSP00000419481.2:n.548-1062_548-1059del
ENST00000700182.1:c.513_516del
ENST00000700183.1:c.*602_*605del
ENST00000357654.9:c.594_597del
ENST00000471181.7:c.594_597del
ENST00000642945.1:c.*468_*471del
ENST00000652672.1:c.453_456del
ENST00000352993.7:c.594_597del
ENST00000354071.7:c.594_597del
ENST00000357654.7:c.594_597del
ENST00000461221.5:c.*377_*380del
ENST00000468300.5:c.594_597del
ENST00000470026.5:c.594_597del
ENST00000471181.6:c.594_597del
ENST00000473961.5:c.268-1062_268-1059del
ENST00000476777.5:c.591_594del
ENST00000477152.5:c.516_519del
ENST00000478531.5:c.591_594del
ENST00000484087.5:c.293-1062_293-1059del	ENSP00000419481.1:n.293-1062_293-1059del
ENST00000487825.5:c.296-1062_296-1059del	ENSP00000418212.1:n.296-1062_296-1059del
ENST00000491747.6:c.594_597del
ENST00000492859.5:c.*530_*533del
ENST00000493795.5:c.453_456del
ENST00000493919.5:c.453_456del
ENST00000494123.5:c.594_597del
ENST00000497488.1:c.-218-1062_-218-1059del	ENSP00000418986.1:n.-218-1062_-218-1059del
ENST00000586385.5:c.4+29260_4+29263del	ENSP00000465818.1:n.4+29260_4+29263del
ENST00000591534.5:c.-43-21401_-43-21398del	ENSP00000467329.1:n.-43-21401_-43-21398del
ENST00000591849.5:c.-99+29349_-99+29352del	ENSP00000465347.1:n.-99+29349_-99+29352del
ENST00000634433.1:c.548-1062_548-1059del	ENSP00000489431.1:n.548-1062_548-1059del
NM_007294.3:c.594_597del , LRG_292t1:c.594_597del
NM_007297.3:c.453_456del
NM_007298.3:c.594_597del
NM_007299.3:c.594_597del
NM_007300.3:c.594_597del
NR_027676.1:n.730_733del
NM_007294.4:c.594_597del
NM_007297.4:c.453_456del
NM_007299.4:c.594_597del
NM_007300.4:c.594_597del
NR_027676.2:n.771_774del