Canonical Allele Identifier: CA10602574

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125822
• ClinVar RCV Id: RCV000112608
• dbSNP Id: rs886040916
• MyVariant Identifiers: chr17:g.41203079_41203101del (hg19) ; chr17:g.43051062_43051084del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051064_43051086del , CM000679.2:g.43051064_43051086del	GRCh38
NC_000017.10:g.41203081_41203103del , CM000679.1:g.41203081_41203103del	GRCh37
NC_000017.9:g.38456607_38456629del	NCBI36
NG_005905.2:g.166900_166922del , LRG_292:g.166900_166922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5308_5329+1del
ENST00000470026.6:c.5311_5332+1del
ENST00000473961.6:c.5185_5206+1del
ENST00000476777.6:c.5305_5326+1del
ENST00000477152.6:c.5233_5254+1del
ENST00000478531.6:c.1999_2020+1del
ENST00000489037.2:c.5233_5254+1del
ENST00000493919.6:c.1861_1882+1del
ENST00000494123.6:c.5311_5332+1del
ENST00000497488.2:c.4423_4444+1del
ENST00000618469.2:c.5311_5332+1del
ENST00000634433.2:c.5188_5209+1del
ENST00000644379.2:c.5377_5398+1del
ENST00000644555.2:c.1861_1882+1del
ENST00000652672.2:c.5170_5191+1del
ENST00000484087.6:c.1873_1894+1del
ENST00000357654.9:c.5311_5332+1del
ENST00000471181.7:c.5374_5395+1del
ENST00000644379.1:c.1698_1719+1del
ENST00000352993.7:c.1885_1906+1del
ENST00000357654.7:c.5311_5332+1del
ENST00000461221.5:c.*5094_*5115+1del
ENST00000468300.5:c.1999_2020+1del
ENST00000471181.6:c.5374_5395+1del
ENST00000491747.6:c.1999_2020+1del
ENST00000493795.5:c.5170_5191+1del
ENST00000586385.5:c.241_262+1del
ENST00000591534.5:c.784_805+1del
ENST00000591849.5:c.-98-894_-98-872del	ENSP00000465347.1:n.-98-894_-98-872del
NM_007294.3:c.5311_5332+1del , LRG_292t1:c.5311_5332+1del
NM_007297.3:c.5170_5191+1del
NM_007298.3:c.1999_2020+1del
NM_007299.3:c.1999_2020+1del
NM_007300.3:c.5374_5395+1del
NR_027676.1:n.5447_5468+1del
NM_007294.4:c.5311_5332+1del
NM_007297.4:c.5170_5191+1del
NM_007299.4:c.1999_2020+1del
NM_007300.4:c.5374_5395+1del
NR_027676.2:n.5488_5509+1del