Canonical Allele Identifier: CA2499224372

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1049561
• ClinVar RCV Id: RCV001355831
• dbSNP Id: rs2153552671

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063331_43063452del , CM000679.2:g.43063331_43063452del	GRCh38
NC_000017.10:g.41215348_41215469del , CM000679.1:g.41215348_41215469del	GRCh37
NC_000017.9:g.38468874_38468995del	NCBI36
NG_005905.2:g.154534_154655del , LRG_292:g.154534_154655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5150-77_5190+4del
ENST00000470026.6:c.5153-77_5193+4del
ENST00000473961.6:c.5027-77_5067+4del
ENST00000476777.6:c.5147-77_5187+4del
ENST00000477152.6:c.5075-77_5115+4del
ENST00000478531.6:c.1841-77_1881+4del
ENST00000489037.2:c.5075-77_5115+4del
ENST00000493919.6:c.1703-77_1743+4del
ENST00000494123.6:c.5153-77_5193+4del
ENST00000497488.2:c.4265-77_4305+4del
ENST00000618469.2:c.5153-77_5193+4del
ENST00000634433.2:c.5030-77_5070+4del
ENST00000644379.2:c.5219-77_5259+4del
ENST00000644555.2:c.1703-77_1743+4del
ENST00000652672.2:c.5012-77_5052+4del
ENST00000484087.6:c.1715-77_1755+4del
ENST00000357654.9:c.5153-77_5193+4del
ENST00000471181.7:c.5216-77_5256+4del
ENST00000644379.1:c.1540-77_1580+4del
ENST00000352993.7:c.1727-77_1767+4del
ENST00000357654.7:c.5153-77_5193+4del
ENST00000461221.5:c.*4936-77_*4976+4del
ENST00000468300.5:c.1841-77_1881+4del
ENST00000471181.6:c.5216-77_5256+4del
ENST00000491747.6:c.1841-77_1881+4del
ENST00000493795.5:c.5012-77_5052+4del
ENST00000586385.5:c.83-77_123+4del
ENST00000591534.5:c.626-77_666+4del
ENST00000591849.5:c.-98-13260_-98-13139del	ENSP00000465347.1:n.-98-13260_-98-13139del
NM_007294.3:c.5153-77_5193+4del , LRG_292t1:c.5153-77_5193+4del
NM_007297.3:c.5012-77_5052+4del
NM_007298.3:c.1841-77_1881+4del
NM_007299.3:c.1841-77_1881+4del
NM_007300.3:c.5216-77_5256+4del
NR_027676.1:n.5289-77_5329+4del
NM_007294.4:c.5153-77_5193+4del
NM_007297.4:c.5012-77_5052+4del
NM_007299.4:c.1841-77_1881+4del
NM_007300.4:c.5216-77_5256+4del
NR_027676.2:n.5330-77_5370+4del