Canonical Allele Identifier: CA10602590
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 267529
ClinVar RCV Id: RCV000258337

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43080387_43084221del , CM000679.2:g.43080387_43084221del GRCh38
NC_000017.10:g.41232404_41236238del , CM000679.1:g.41232404_41236238del GRCh37
NC_000017.9:g.38485930_38489764del NCBI36
NG_005905.2:g.133766_137600del , LRG_292:g.133766_137600del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4186-1643_4357+2020del
ENST00000470026.6:c.4186-1643_4357+2020del
ENST00000473961.6:c.4060-1643_4231+2020del
ENST00000476777.6:c.4183-1646_4351+2020del
ENST00000477152.6:c.4108-1643_4279+2020del
ENST00000478531.6:c.874-1643_1045+2020del
ENST00000489037.2:c.4108-1643_4279+2020del
ENST00000493919.6:c.736-1643_907+2020del
ENST00000494123.6:c.4186-1643_4357+2020del
ENST00000497488.2:c.3298-1643_3469+2020del
ENST00000618469.2:c.4186-1643_4357+2020del
ENST00000634433.2:c.4063-1643_4234+2020del
ENST00000644379.2:c.4186-1643_4358-985del
ENST00000644555.2:c.736-1643_907+2020del
ENST00000652672.2:c.4045-1643_4216+2020del
ENST00000484087.6:c.754-1646_922+2020del
ENST00000700182.1:c.796-1643_967+2020del
ENST00000357654.9:c.4186-1643_4357+2020del
ENST00000471181.7:c.4186-1643_4358-985del
ENST00000644379.1:c.507-1643_679-985del
ENST00000352993.7:c.760-1643_931+2020del
ENST00000357654.7:c.4186-1643_4357+2020del
ENST00000461221.5:c.*3969-1643_*4140+2020del
ENST00000461574.1:c.480-1643_651+2020del
ENST00000468300.5:c.877-1643_1048+2020del
ENST00000471181.6:c.4186-1643_4358-985del
ENST00000478531.5:c.874-1643_1045+2020del
ENST00000484087.5:c.499-1643_670+2020del
ENST00000487825.5:c.502-1643_673+2020del
ENST00000491747.6:c.877-1643_1048+2020del
ENST00000493795.5:c.4045-1643_4216+2020del
ENST00000493919.5:c.736-1643_907+2020del
ENST00000586385.5:c.5-20267_5-16433del ENSP00000465818.1:n.5-20267_5-16433del
ENST00000591534.5:c.-43-9697_-43-5863del ENSP00000467329.1:n.-43-9697_-43-5863del
ENST00000591849.5:c.-98-34028_-98-30194del ENSP00000465347.1:n.-98-34028_-98-30194de...
NM_007294.3:c.4186-1643_4357+2020del , LRG_292t1:c.4186-1643_4357+2020del
NM_007297.3:c.4045-1643_4216+2020del
NM_007298.3:c.877-1643_1048+2020del
NM_007299.3:c.877-1643_1048+2020del
NM_007300.3:c.4186-1643_4358-985del
NR_027676.1:n.4322-1643_4493+2020del
NM_007294.4:c.4186-1643_4357+2020del
NM_007297.4:c.4045-1643_4216+2020del
NM_007299.4:c.877-1643_1048+2020del
NM_007300.4:c.4186-1643_4358-985del
NR_027676.2:n.4363-1643_4534+2020del