Canonical Allele Identifier: CA10602610
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 267729
ClinVar RCV Id: RCV000258434

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43067266_43068273del , CM000679.2:g.43067266_43068273del GRCh38
NC_000017.10:g.41219283_41220290del , CM000679.1:g.41219283_41220290del GRCh37
NC_000017.9:g.38472809_38473816del NCBI36
NG_005905.2:g.149712_150719del , LRG_292:g.149712_150719del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4984-577_5071+343del
ENST00000470026.6:c.4987-577_5074+343del
ENST00000473961.6:c.4861-577_4948+343del
ENST00000476777.6:c.4981-577_5068+343del
ENST00000477152.6:c.4909-577_4996+343del
ENST00000478531.6:c.1675-577_1762+343del
ENST00000489037.2:c.4909-577_4996+343del
ENST00000493919.6:c.1537-577_1624+343del
ENST00000494123.6:c.4987-577_5074+343del
ENST00000497488.2:c.4099-577_4186+343del
ENST00000618469.2:c.4987-577_5074+343del
ENST00000634433.2:c.4864-577_4951+343del
ENST00000644379.2:c.5053-577_5140+343del
ENST00000644555.2:c.1537-577_1624+343del
ENST00000652672.2:c.4846-577_4933+343del
ENST00000484087.6:c.1549-577_1636+343del
ENST00000357654.9:c.4987-577_5074+343del
ENST00000471181.7:c.5050-577_5137+343del
ENST00000644379.1:c.1374-577_1461+343del
ENST00000352993.7:c.1561-577_1648+343del
ENST00000357654.7:c.4987-577_5074+343del
ENST00000461221.5:c.*4770-577_*4857+343del
ENST00000468300.5:c.1675-577_1762+343del
ENST00000471181.6:c.5050-577_5137+343del
ENST00000478531.5:c.1675-577_1762+343del
ENST00000484087.5:c.1300-577_1387+343del
ENST00000491747.6:c.1675-577_1762+343del
ENST00000493795.5:c.4846-577_4933+343del
ENST00000493919.5:c.1537-577_1624+343del
ENST00000586385.5:c.5-4321_5-3314del ENSP00000465818.1:n.5-4321_5-3314del
ENST00000591534.5:c.460-577_547+343del
ENST00000591849.5:c.-98-18082_-98-17075del ENSP00000465347.1:n.-98-18082_-98-17075de...
NM_007294.3:c.4987-577_5074+343del , LRG_292t1:c.4987-577_5074+343del
NM_007297.3:c.4846-577_4933+343del
NM_007298.3:c.1675-577_1762+343del
NM_007299.3:c.1675-577_1762+343del
NM_007300.3:c.5050-577_5137+343del
NR_027676.1:n.5123-577_5210+343del
NM_007294.4:c.4987-577_5074+343del
NM_007297.4:c.4846-577_4933+343del
NM_007299.4:c.1675-577_1762+343del
NM_007300.4:c.5050-577_5137+343del
NR_027676.2:n.5164-577_5251+343del