Canonical Allele Identifier: CA2499224337

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1049236
• ClinVar RCV Id: RCV001355095 ; RCV001358623
• dbSNP Id: rs2152474705

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045676_43045803del , CM000679.2:g.43045676_43045803del	GRCh38
NC_000017.10:g.41197693_41197820del , CM000679.1:g.41197693_41197820del	GRCh37
NC_000017.9:g.38451219_38451346del	NCBI36
NG_005905.2:g.172184_172311del , LRG_292:g.172184_172311del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5467_*5del
ENST00000470026.6:c.5470_*5del
ENST00000473961.6:c.5344_*5del
ENST00000476777.6:c.5464_*5del
ENST00000477152.6:c.5392_*5del
ENST00000478531.6:c.2158_*5del
ENST00000489037.2:c.5392_*5del
ENST00000493919.6:c.2020_*5del
ENST00000494123.6:c.5470_*5del
ENST00000497488.2:c.4582_*5del
ENST00000618469.2:c.5470_*5del
ENST00000634433.2:c.5347_*5del
ENST00000644379.2:c.5536_*5del
ENST00000644555.2:c.2020_*5del
ENST00000652672.2:c.5329_*5del
ENST00000484087.6:c.2032_*5del
ENST00000700081.1:n.1353_1480del
ENST00000700082.1:n.834_961del
ENST00000357654.9:c.5470_*5del
ENST00000471181.7:c.5533_*5del
ENST00000644379.1:c.1857_1984del
ENST00000352993.7:c.2044_*5del
ENST00000357654.7:c.5470_*5del
ENST00000468300.5:c.2084_*111del
ENST00000471181.6:c.5533_*5del
ENST00000493795.5:c.5329_*5del
ENST00000586385.5:c.400_*5del
ENST00000591534.5:c.943_*5del
ENST00000591849.5:c.169_*5del
NM_007294.3:c.5470_*5del , LRG_292t1:c.5470_*5del
NM_007297.3:c.5329_*5del
NM_007298.3:c.2158_*5del
NM_007299.3:c.2084_*111del
NM_007300.3:c.5533_*5del
NR_027676.1:n.5606_5733del
NM_007294.4:c.5470_*5del
NM_007297.4:c.5329_*5del
NM_007299.4:c.2084_*111del
NM_007300.4:c.5533_*5del
NR_027676.2:n.5647_5774del