Canonical Allele Identifier: CA10602585

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 267559
• ClinVar RCV Id: RCV000258172
• MyVariant Identifiers: chr17:g.41222045_41224675del (hg19) ; chr17:g.43070028_43072658del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070037_43072667del , CM000679.2:g.43070037_43072667del	GRCh38
NC_000017.10:g.41222054_41224684del , CM000679.1:g.41222054_41224684del	GRCh37
NC_000017.9:g.38475580_38478210del	NCBI36
NG_005905.2:g.145326_147956del , LRG_292:g.145326_147956del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4673-1420_4983+900del
ENST00000470026.6:c.4676-1420_4986+900del
ENST00000473961.6:c.4550-1420_4860+900del
ENST00000476777.6:c.4670-1420_4980+900del
ENST00000477152.6:c.4598-1420_4908+900del
ENST00000478531.6:c.1364-1420_1674+900del
ENST00000489037.2:c.4598-1420_4908+900del
ENST00000493919.6:c.1226-1420_1536+900del
ENST00000494123.6:c.4676-1420_4986+900del
ENST00000497488.2:c.3788-1420_4098+900del
ENST00000618469.2:c.4676-1420_4986+900del
ENST00000634433.2:c.4553-1420_4863+900del
ENST00000644379.2:c.4742-1420_5052+900del
ENST00000644555.2:c.1226-1420_1536+900del
ENST00000652672.2:c.4535-1420_4845+900del
ENST00000484087.6:c.1238-1420_1548+900del
ENST00000357654.9:c.4676-1420_4986+900del
ENST00000471181.7:c.4739-1420_5049+900del
ENST00000644379.1:c.1063-1420_1373+900del
ENST00000352993.7:c.1250-1420_1560+900del
ENST00000357654.7:c.4676-1420_4986+900del
ENST00000461221.5:c.*4459-1420_*4769+900del
ENST00000468300.5:c.1364-1420_1674+900del
ENST00000471181.6:c.4739-1420_5049+900del
ENST00000478531.5:c.1364-1420_1674+900del
ENST00000484087.5:c.989-1420_1299+900del
ENST00000491747.6:c.1364-1420_1674+900del
ENST00000493795.5:c.4535-1420_4845+900del
ENST00000493919.5:c.1226-1420_1536+900del
ENST00000586385.5:c.5-8707_5-6077del	ENSP00000465818.1:n.5-8707_5-6077del
ENST00000591534.5:c.149-1420_459+900del
ENST00000591849.5:c.-98-22468_-98-19838del	ENSP00000465347.1:n.-98-22468_-98-19838de...
NM_007294.3:c.4676-1420_4986+900del , LRG_292t1:c.4676-1420_4986+900del
NM_007297.3:c.4535-1420_4845+900del
NM_007298.3:c.1364-1420_1674+900del
NM_007299.3:c.1364-1420_1674+900del
NM_007300.3:c.4739-1420_5049+900del
NR_027676.1:n.4812-1420_5122+900del
NM_007294.4:c.4676-1420_4986+900del
NM_007297.4:c.4535-1420_4845+900del
NM_007299.4:c.1364-1420_1674+900del
NM_007300.4:c.4739-1420_5049+900del
NR_027676.2:n.4853-1420_5163+900del