Canonical Allele Identifier: CA16616885
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 417831
dbSNP Id: rs1060505051

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091884_43091888del , CM000679.2:g.43091884_43091888del GRCh38
NC_000017.10:g.41243901_41243905del , CM000679.1:g.41243901_41243905del GRCh37
NC_000017.9:g.38497427_38497431del NCBI36
NG_005905.2:g.126097_126101del , LRG_292:g.126097_126101del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3708_3712del
ENST00000461574.2:c.3644_3648del ENSP00000417241.2:p.Asn1215IlefsTer2
ENST00000470026.6:c.3644_3648del ENSP00000419274.2:p.Asn1215IlefsTer2
ENST00000473961.6:c.3518_3522del ENSP00000420201.2:p.Asn1173IlefsTer2
ENST00000476777.6:c.3641_3645del ENSP00000417554.2:p.Asn1214IlefsTer2
ENST00000477152.6:c.3566_3570del ENSP00000419988.2:p.Asn1189IlefsTer2
ENST00000478531.6:c.785-855_785-851del ENSP00000420412.2:n.785-855_785-851del
ENST00000489037.2:c.3566_3570del ENSP00000420781.2:p.Asn1189IlefsTer2
ENST00000493919.6:c.647-855_647-851del ENSP00000418819.2:n.647-855_647-851del
ENST00000494123.6:c.3644_3648del ENSP00000419103.2:p.Asn1215IlefsTer2
ENST00000497488.2:c.2756_2760del ENSP00000418986.2:p.Asn919IlefsTer2
ENST00000618469.2:c.3644_3648del ENSP00000478114.2:p.Asn1215IlefsTer2
ENST00000634433.2:c.3521_3525del ENSP00000489431.2:p.Asn1174IlefsTer2
ENST00000644379.2:c.3644_3648del ENSP00000496570.2:p.Asn1215IlefsTer2
ENST00000644555.2:c.647-855_647-851del ENSP00000494614.2:n.647-855_647-851del
ENST00000652672.2:c.3503_3507del ENSP00000498906.2:p.Asn1168IlefsTer2
ENST00000484087.6:c.665-855_665-851del ENSP00000419481.2:n.665-855_665-851del
ENST00000700182.1:c.707-855_707-851del ENSP00000514849.1:n.707-855_707-851del
ENST00000357654.9:c.3644_3648del MANE Select ENSP00000350283.3:p.Asn1215IlefsTer2
ENST00000471181.7:c.3644_3648del ENSP00000418960.2:p.Asn1215IlefsTer2
ENST00000352993.7:c.671-855_671-851del ENSP00000312236.5:n.671-855_671-851del
ENST00000354071.7:c.3644_3648del ENSP00000326002.7:p.Asn1215IlefsTer2
ENST00000357654.7:c.3644_3648del ENSP00000350283.3:p.Asn1215IlefsTer2
ENST00000461221.5:c.*3427_*3431del ENSP00000418548.1:n.*3427_*3431del
ENST00000468300.5:c.788-855_788-851del ENSP00000417148.1:n.788-855_788-851del
ENST00000471181.6:c.3644_3648del ENSP00000418960.2:p.Asn1215IlefsTer2
ENST00000478531.5:c.785-855_785-851del ENSP00000420412.1:n.785-855_785-851del
ENST00000484087.5:c.410-855_410-851del ENSP00000419481.1:n.410-855_410-851del
ENST00000487825.5:c.413-855_413-851del ENSP00000418212.1:n.413-855_413-851del
ENST00000491747.6:c.788-855_788-851del ENSP00000420705.2:n.788-855_788-851del
ENST00000493795.5:c.3503_3507del ENSP00000418775.1:p.Asn1168IlefsTer2
ENST00000493919.5:c.647-855_647-851del ENSP00000418819.1:n.647-855_647-851del
ENST00000586385.5:c.5-27936_5-27932del ENSP00000465818.1:n.5-27936_5-27932del
ENST00000591534.5:c.-43-17366_-43-17362del ENSP00000467329.1:n.-43-17366_-43-17362del
ENST00000591849.5:c.-99+33384_-99+33388del ENSP00000465347.1:n.-99+33384_-99+33388del
NM_007294.3:c.3644_3648del , LRG_292t1:c.3644_3648del NP_009225.1:p.Asn1215IlefsTer2
NM_007297.3:c.3503_3507del NP_009228.2:p.Asn1168IlefsTer2
NM_007298.3:c.788-855_788-851del NP_009229.2:n.788-855_788-851del
NM_007299.3:c.788-855_788-851del NP_009230.2:n.788-855_788-851del
NM_007300.3:c.3644_3648del NP_009231.2:p.Asn1215IlefsTer2
NR_027676.1:n.3780_3784del
NM_007294.4:c.3644_3648del MANE Select NP_009225.1:p.Asn1215IlefsTer2
NM_007297.4:c.3503_3507del NP_009228.2:p.Asn1168IlefsTer2
NM_007299.4:c.788-855_788-851del NP_009230.2:n.788-855_788-851del
NM_007300.4:c.3644_3648del NP_009231.2:p.Asn1215IlefsTer2
NR_027676.2:n.3821_3825del