Canonical Allele Identifier: CA2499224348
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1049017
ClinVar RCV Id: RCV001354560
dbSNP Id: rs2152762741

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047641_43047778del , CM000679.2:g.43047641_43047778del GRCh38
NC_000017.10:g.41199658_41199795del , CM000679.1:g.41199658_41199795del GRCh37
NC_000017.9:g.38453184_38453321del NCBI36
NG_005905.2:g.170208_170345del , LRG_292:g.170208_170345del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5404-73_5464+4del
ENST00000470026.6:c.5407-73_5467+4del
ENST00000473961.6:c.5281-73_5341+4del
ENST00000476777.6:c.5401-73_5461+4del
ENST00000477152.6:c.5329-73_5389+4del
ENST00000478531.6:c.2095-73_2155+4del
ENST00000489037.2:c.5329-73_5389+4del
ENST00000493919.6:c.1957-73_2017+4del
ENST00000494123.6:c.5407-73_5467+4del
ENST00000497488.2:c.4519-73_4579+4del
ENST00000618469.2:c.5407-73_5467+4del
ENST00000634433.2:c.5284-73_5344+4del
ENST00000644379.2:c.5473-73_5533+4del
ENST00000644555.2:c.1957-73_2017+4del
ENST00000652672.2:c.5266-73_5326+4del
ENST00000484087.6:c.1969-73_2029+4del
ENST00000700081.1:n.1290-73_1350+4del
ENST00000700082.1:n.698_831+4del
ENST00000357654.9:c.5407-73_5467+4del
ENST00000471181.7:c.5470-73_5530+4del
ENST00000644379.1:c.1794-73_1854+4del
ENST00000352993.7:c.1981-73_2041+4del
ENST00000357654.7:c.5407-73_5467+4del
ENST00000461221.5:c.*5190-73_*5250+4del
ENST00000468300.5:c.2021-73_2081+4del
ENST00000471181.6:c.5470-73_5530+4del
ENST00000491747.6:c.2095-73_2155+4del
ENST00000493795.5:c.5266-73_5326+4del
ENST00000586385.5:c.337-73_397+4del
ENST00000591534.5:c.880-73_940+4del
ENST00000591849.5:c.106-73_166+4del
NM_007294.3:c.5407-73_5467+4del , LRG_292t1:c.5407-73_5467+4del
NM_007297.3:c.5266-73_5326+4del
NM_007298.3:c.2095-73_2155+4del
NM_007299.3:c.2021-73_2081+4del
NM_007300.3:c.5470-73_5530+4del
NR_027676.1:n.5543-73_5603+4del
NM_007294.4:c.5407-73_5467+4del
NM_007297.4:c.5266-73_5326+4del
NM_007299.4:c.2021-73_2081+4del
NM_007300.4:c.5470-73_5530+4del
NR_027676.2:n.5584-73_5644+4del