Canonical Allele Identifier: CA003581
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37669
dbSNP Id: rs80357558

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047695del , CM000679.2:g.43047695del GRCh38
NC_000017.10:g.41199712del , CM000679.1:g.41199712del GRCh37
NC_000017.9:g.38453238del NCBI36
NG_005905.2:g.170291del , LRG_292:g.170291del

Transcript Alleles

HGVS Amino-acid change
ENST00000357654.9:c.5417del MANE Select ENSP00000350283.3:p.Pro1806GlnfsTer28
ENST00000471181.7:c.5480del ENSP00000418960.2:p.Pro1827GlnfsTer28
ENST00000644379.1:n.1804del
ENST00000352993.7:c.1991del ENSP00000312236.5:p.Pro664GlnfsTer28
ENST00000357654.7:c.5417del ENSP00000350283.3:p.Pro1806GlnfsTer28
ENST00000461221.5:c.*5200del ENSP00000418548.1:p.=
ENST00000468300.5:c.2031del ENSP00000417148.1:p.Asn678IlefsTer?
ENST00000471181.6:c.5480del ENSP00000418960.2:p.Pro1827GlnfsTer28
ENST00000491747.6:c.2105del ENSP00000420705.2:p.Pro702GlnfsTer28
ENST00000493795.5:c.5276del ENSP00000418775.1:p.Pro1759GlnfsTer28
ENST00000586385.5:c.347del ENSP00000465818.1:p.Pro116GlnfsTer28
ENST00000591534.5:c.890del ENSP00000467329.1:p.Pro297GlnfsTer28
ENST00000591849.5:c.116del ENSP00000465347.1:p.Pro39GlnfsTer28
NM_007294.3:c.5417del , LRG_292t1:c.5417del NP_009225.1:p.Pro1806GlnfsTer28
NM_007297.3:c.5276del NP_009228.2:p.Pro1759GlnfsTer28
NM_007298.3:c.2105del NP_009229.2:p.Pro702GlnfsTer28
NM_007299.3:c.2031del NP_009230.2:p.Asn678IlefsTer?
NM_007300.3:c.5480del NP_009231.2:p.Pro1827GlnfsTer28
NR_027676.1:n.5553del
NM_007294.4:c.5417del MANE Select NP_009225.1:p.Pro1806GlnfsTer28
NM_007297.4:c.5276del NP_009228.2:p.Pro1759GlnfsTer28
NM_007299.4:c.2031del NP_009230.2:p.Asn678IlefsTer?
NM_007300.4:c.5480del NP_009231.2:p.Pro1827GlnfsTer28
NR_027676.2:n.5594del