Canonical Allele Identifier: CA2499224349
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047702_43047708del , CM000679.2:g.43047702_43047708del GRCh38
NC_000017.10:g.41199719_41199725del , CM000679.1:g.41199719_41199725del GRCh37
NC_000017.9:g.38453245_38453251del NCBI36
NG_005905.2:g.170277_170283del , LRG_292:g.170277_170283del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5404-4_5406del
ENST00000470026.6:c.5407-4_5409del
ENST00000473961.6:c.5281-4_5283del
ENST00000476777.6:c.5401-4_5403del
ENST00000477152.6:c.5329-4_5331del
ENST00000478531.6:c.2095-4_2097del
ENST00000489037.2:c.5329-4_5331del
ENST00000493919.6:c.1957-4_1959del
ENST00000494123.6:c.5407-4_5409del
ENST00000497488.2:c.4519-4_4521del
ENST00000618469.2:c.5407-4_5409del
ENST00000634433.2:c.5284-4_5286del
ENST00000644379.2:c.5473-4_5475del
ENST00000644555.2:c.1957-4_1959del
ENST00000652672.2:c.5266-4_5268del
ENST00000484087.6:c.1969-4_1971del
ENST00000700081.1:n.1290-4_1292del
ENST00000700082.1:n.767_773del
ENST00000357654.9:c.5407-4_5409del
ENST00000471181.7:c.5470-4_5472del
ENST00000644379.1:c.1794-4_1796del
ENST00000352993.7:c.1981-4_1983del
ENST00000357654.7:c.5407-4_5409del
ENST00000461221.5:c.*5190-4_*5192del
ENST00000468300.5:c.2021-4_2023del
ENST00000471181.6:c.5470-4_5472del
ENST00000491747.6:c.2095-4_2097del
ENST00000493795.5:c.5266-4_5268del
ENST00000586385.5:c.337-4_339del
ENST00000591534.5:c.880-4_882del
ENST00000591849.5:c.106-4_108del
NM_007294.3:c.5407-4_5409del , LRG_292t1:c.5407-4_5409del
NM_007297.3:c.5266-4_5268del
NM_007298.3:c.2095-4_2097del
NM_007299.3:c.2021-4_2023del
NM_007300.3:c.5470-4_5472del
NR_027676.1:n.5543-4_5545del
NM_007294.4:c.5407-4_5409del
NM_007297.4:c.5266-4_5268del
NM_007299.4:c.2021-4_2023del
NM_007300.4:c.5470-4_5472del
NR_027676.2:n.5584-4_5586del