Canonical Allele Identifier: CA10602591
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 267531
ClinVar RCV Id: RCV000258217

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43080468_43083426del , CM000679.2:g.43080468_43083426del GRCh38
NC_000017.10:g.41232485_41235443del , CM000679.1:g.41232485_41235443del GRCh37
NC_000017.9:g.38486011_38488969del NCBI36
NG_005905.2:g.134577_137535del , LRG_292:g.134577_137535del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4186-832_4357+1955del
ENST00000470026.6:c.4186-832_4357+1955del
ENST00000473961.6:c.4060-832_4231+1955del
ENST00000476777.6:c.4183-835_4351+1955del
ENST00000477152.6:c.4108-832_4279+1955del
ENST00000478531.6:c.874-832_1045+1955del
ENST00000489037.2:c.4108-832_4279+1955del
ENST00000493919.6:c.736-832_907+1955del
ENST00000494123.6:c.4186-832_4357+1955del
ENST00000497488.2:c.3298-832_3469+1955del
ENST00000618469.2:c.4186-832_4357+1955del
ENST00000634433.2:c.4063-832_4234+1955del
ENST00000644379.2:c.4186-832_4358-1050del
ENST00000644555.2:c.736-832_907+1955del
ENST00000652672.2:c.4045-832_4216+1955del
ENST00000484087.6:c.754-835_922+1955del
ENST00000700182.1:c.796-832_967+1955del
ENST00000357654.9:c.4186-832_4357+1955del
ENST00000471181.7:c.4186-832_4358-1050del
ENST00000644379.1:c.507-832_679-1050del
ENST00000352993.7:c.760-832_931+1955del
ENST00000357654.7:c.4186-832_4357+1955del
ENST00000461221.5:c.*3969-832_*4140+1955del
ENST00000461574.1:c.480-832_651+1955del
ENST00000468300.5:c.877-832_1048+1955del
ENST00000471181.6:c.4186-832_4358-1050del
ENST00000478531.5:c.874-832_1045+1955del
ENST00000484087.5:c.499-832_670+1955del
ENST00000487825.5:c.502-832_673+1955del
ENST00000491747.6:c.877-832_1048+1955del
ENST00000493795.5:c.4045-832_4216+1955del
ENST00000493919.5:c.736-832_907+1955del
ENST00000586385.5:c.5-19456_5-16498del ENSP00000465818.1:n.5-19456_5-16498del
ENST00000591534.5:c.-43-8886_-43-5928del ENSP00000467329.1:n.-43-8886_-43-5928del
ENST00000591849.5:c.-98-33217_-98-30259del ENSP00000465347.1:n.-98-33217_-98-30259de...
NM_007294.3:c.4186-832_4357+1955del , LRG_292t1:c.4186-832_4357+1955del
NM_007297.3:c.4045-832_4216+1955del
NM_007298.3:c.877-832_1048+1955del
NM_007299.3:c.877-832_1048+1955del
NM_007300.3:c.4186-832_4358-1050del
NR_027676.1:n.4322-832_4493+1955del
NM_007294.4:c.4186-832_4357+1955del
NM_007297.4:c.4045-832_4216+1955del
NM_007299.4:c.877-832_1048+1955del
NM_007300.4:c.4186-832_4358-1050del
NR_027676.2:n.4363-832_4534+1955del