Canonical Allele Identifier: CA2581463415

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045329_43045805del , CM000679.2:g.43045329_43045805del	GRCh38
NC_000017.10:g.41197346_41197822del , CM000679.1:g.41197346_41197822del	GRCh37
NC_000017.9:g.38450872_38451348del	NCBI36
NG_005905.2:g.172182_172658del , LRG_292:g.172182_172658del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5465_*352del
ENST00000470026.6:c.5468_*352del
ENST00000473961.6:c.5342_*352del
ENST00000476777.6:c.5462_*352del
ENST00000477152.6:c.5390_*352del
ENST00000478531.6:c.2156_*352del
ENST00000489037.2:c.5390_*352del
ENST00000493919.6:c.2018_*352del
ENST00000494123.6:c.5468_*352del
ENST00000497488.2:c.4580_*352del
ENST00000618469.2:c.5468_*352del
ENST00000634433.2:c.5345_*352del
ENST00000644379.2:c.5534_*352del
ENST00000644555.2:c.2018_*352del
ENST00000652672.2:c.5327_*352del
ENST00000700081.1:n.1351_1827del
ENST00000700082.1:n.832_1308del
ENST00000357654.9:c.5468_*352del
ENST00000471181.7:c.5531_*352del
ENST00000644379.1:c.1855_2331del
ENST00000352993.7:c.2042_*352del
ENST00000357654.7:c.5468_*352del
ENST00000468300.5:c.2082_*458del
NM_007294.3:c.5468_*352del , LRG_292t1:c.5468_*352del
NM_007297.3:c.5327_*352del
NM_007298.3:c.2156_*352del
NM_007299.3:c.2082_*458del
NM_007300.3:c.5531_*352del
NR_027676.1:n.5604_6080del
NM_007294.4:c.5468_*352del
NM_007297.4:c.5327_*352del
NM_007299.4:c.2082_*458del
NM_007300.4:c.5531_*352del
NR_027676.2:n.5645_6121del