Canonical Allele Identifier: CA2581463416
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43045678_43047703del , CM000679.2:g.43045678_43047703del GRCh38
NC_000017.10:g.41197695_41199720del , CM000679.1:g.41197695_41199720del GRCh37
NC_000017.9:g.38451221_38453246del NCBI36
NG_005905.2:g.170281_172306del , LRG_292:g.170281_172306del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5404_5589del
ENST00000470026.6:c.5407_5592del
ENST00000473961.6:c.5281_5466del
ENST00000476777.6:c.5401_5586del
ENST00000477152.6:c.5329_5514del
ENST00000478531.6:c.2095_2280del
ENST00000489037.2:c.5329_5514del
ENST00000493919.6:c.1957_2142del
ENST00000494123.6:c.5407_5592del
ENST00000497488.2:c.4519_4704del
ENST00000618469.2:c.5407_5592del
ENST00000634433.2:c.5284_5469del
ENST00000644379.2:c.5473_5658del
ENST00000644555.2:c.1957_2142del
ENST00000652672.2:c.5266_5451del
ENST00000484087.6:c.1969_2154del
ENST00000700081.1:n.1290_1475del
ENST00000700082.1:n.771_956del
ENST00000357654.9:c.5407_5592del
ENST00000471181.7:c.5470_5655del
ENST00000644379.1:c.1794_1979del
ENST00000352993.7:c.1981_2166del
ENST00000357654.7:c.5407_5592del
ENST00000461221.5:c.*5190_*5375del
ENST00000468300.5:c.2021_*106del
ENST00000471181.6:c.5470_5655del
ENST00000491747.6:c.2095_2280del
ENST00000493795.5:c.5266_5451del
ENST00000586385.5:c.337_522del
ENST00000591534.5:c.880_1065del
ENST00000591849.5:c.106_291del
NM_007294.3:c.5407_5592del , LRG_292t1:c.5407_5592del
NM_007297.3:c.5266_5451del
NM_007298.3:c.2095_2280del
NM_007299.3:c.2021_*106del
NM_007300.3:c.5470_5655del
NR_027676.1:n.5543_5728del
NM_007294.4:c.5407_5592del
NM_007297.4:c.5266_5451del
NM_007299.4:c.2021_*106del
NM_007300.4:c.5470_5655del
NR_027676.2:n.5584_5769del