Canonical Allele Identifier: CA10575957
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224425
ClinVar RCV Id: RCV000240682

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063955_43071241del , CM000679.2:g.43063955_43071241del GRCh38
NC_000017.10:g.41215972_41223258del , CM000679.1:g.41215972_41223258del GRCh37
NC_000017.9:g.38469498_38476784del NCBI36
NG_005905.2:g.146747_154033del , LRG_292:g.146747_154033del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4674_5072del
ENST00000470026.6:c.4677_5075del
ENST00000473961.6:c.4551_4949del
ENST00000476777.6:c.4671_5069del
ENST00000477152.6:c.4599_4997del
ENST00000478531.6:c.1365_1763del
ENST00000489037.2:c.4599_4997del
ENST00000493919.6:c.1227_1625del
ENST00000494123.6:c.4677_5075del
ENST00000497488.2:c.3789_4187del
ENST00000618469.2:c.4677_5075del
ENST00000634433.2:c.4554_4952del
ENST00000644379.2:c.4743_5141del
ENST00000644555.2:c.1227_1625del
ENST00000652672.2:c.4536_4934del
ENST00000484087.6:c.1239_1637del
ENST00000357654.9:c.4677_5075del
ENST00000471181.7:c.4740_5138del
ENST00000644379.1:c.1064_1462del
ENST00000352993.7:c.1251_1649del
ENST00000357654.7:c.4677_5075del
ENST00000461221.5:c.*4460_*4858del
ENST00000468300.5:c.1365_1763del
ENST00000471181.6:c.4740_5138del
ENST00000478531.5:c.1365_1763del
ENST00000484087.5:c.990_1388del
ENST00000491747.6:c.1365_1763del
ENST00000493795.5:c.4536_4934del
ENST00000493919.5:c.1227_1625del
ENST00000586385.5:c.5-7286_5del
ENST00000591534.5:c.150_548del
ENST00000591849.5:c.-98-21047_-98-13761del ENSP00000465347.1:n.-98-21047_-98-13761de...
NM_007294.3:c.4677_5075del , LRG_292t1:c.4677_5075del
NM_007297.3:c.4536_4934del
NM_007298.3:c.1365_1763del
NM_007299.3:c.1365_1763del
NM_007300.3:c.4740_5138del
NR_027676.1:n.4813_5211del
NM_007294.4:c.4677_5075del
NM_007297.4:c.4536_4934del
NM_007299.4:c.1365_1763del
NM_007300.4:c.4740_5138del
NR_027676.2:n.4854_5252del