Canonical Allele Identifier: CA002242
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54897
dbSNP Id: rs397509073

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092043_43092052del , CM000679.2:g.43092043_43092052del GRCh38
NC_000017.10:g.41244060_41244069del , CM000679.1:g.41244060_41244069del GRCh37
NC_000017.9:g.38497586_38497595del NCBI36
NG_005905.2:g.125932_125941del , LRG_292:g.125932_125941del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3543_3552del
ENST00000461574.2:c.3479_3488del ENSP00000417241.2:p.Lys1160IlefsTer?
ENST00000470026.6:c.3479_3488del ENSP00000419274.2:p.Lys1160IlefsTer?
ENST00000473961.6:c.3353_3362del ENSP00000420201.2:p.Lys1118IlefsTer?
ENST00000476777.6:c.3476_3485del ENSP00000417554.2:p.Lys1159IlefsTer?
ENST00000477152.6:c.3401_3410del ENSP00000419988.2:p.Lys1134IlefsTer?
ENST00000478531.6:c.785-1020_785-1011del ENSP00000420412.2:n.785-1020_785-1011del
ENST00000489037.2:c.3401_3410del ENSP00000420781.2:p.Lys1134IlefsTer?
ENST00000493919.6:c.647-1020_647-1011del ENSP00000418819.2:n.647-1020_647-1011del
ENST00000494123.6:c.3479_3488del ENSP00000419103.2:p.Lys1160IlefsTer?
ENST00000497488.2:c.2591_2600del ENSP00000418986.2:p.Lys864IlefsTer?
ENST00000618469.2:c.3479_3488del ENSP00000478114.2:p.Lys1160IlefsTer?
ENST00000634433.2:c.3356_3365del ENSP00000489431.2:p.Lys1119IlefsTer?
ENST00000644379.2:c.3479_3488del ENSP00000496570.2:p.Lys1160IlefsTer?
ENST00000644555.2:c.647-1020_647-1011del ENSP00000494614.2:n.647-1020_647-1011del
ENST00000652672.2:c.3338_3347del ENSP00000498906.2:p.Lys1113IlefsTer?
ENST00000484087.6:c.665-1020_665-1011del ENSP00000419481.2:n.665-1020_665-1011del
ENST00000700182.1:c.707-1020_707-1011del ENSP00000514849.1:n.707-1020_707-1011del
ENST00000357654.9:c.3479_3488del MANE Select ENSP00000350283.3:p.Lys1160IlefsTer?
ENST00000471181.7:c.3479_3488del ENSP00000418960.2:p.Lys1160IlefsTer?
ENST00000352993.7:c.671-1020_671-1011del ENSP00000312236.5:n.671-1020_671-1011del
ENST00000354071.7:c.3479_3488del ENSP00000326002.7:p.Lys1160IlefsTer?
ENST00000357654.7:c.3479_3488del ENSP00000350283.3:p.Lys1160IlefsTer?
ENST00000461221.5:c.*3262_*3271del ENSP00000418548.1:n.*3262_*3271del
ENST00000468300.5:c.788-1020_788-1011del ENSP00000417148.1:n.788-1020_788-1011del
ENST00000471181.6:c.3479_3488del ENSP00000418960.2:p.Lys1160IlefsTer?
ENST00000478531.5:c.785-1020_785-1011del ENSP00000420412.1:n.785-1020_785-1011del
ENST00000484087.5:c.410-1020_410-1011del ENSP00000419481.1:n.410-1020_410-1011del
ENST00000487825.5:c.413-1020_413-1011del ENSP00000418212.1:n.413-1020_413-1011del
ENST00000491747.6:c.788-1020_788-1011del ENSP00000420705.2:n.788-1020_788-1011del
ENST00000493795.5:c.3338_3347del ENSP00000418775.1:p.Lys1113IlefsTer?
ENST00000493919.5:c.647-1020_647-1011del ENSP00000418819.1:n.647-1020_647-1011del
ENST00000586385.5:c.5-28101_5-28092del ENSP00000465818.1:n.5-28101_5-28092del
ENST00000591534.5:c.-43-17531_-43-17522del ENSP00000467329.1:n.-43-17531_-43-17522de...
ENST00000591849.5:c.-99+33219_-99+33228del ENSP00000465347.1:n.-99+33219_-99+33228de...
NM_007294.3:c.3479_3488del , LRG_292t1:c.3479_3488del NP_009225.1:p.Lys1160IlefsTer?
NM_007297.3:c.3338_3347del NP_009228.2:p.Lys1113IlefsTer?
NM_007298.3:c.788-1020_788-1011del NP_009229.2:n.788-1020_788-1011del
NM_007299.3:c.788-1020_788-1011del NP_009230.2:n.788-1020_788-1011del
NM_007300.3:c.3479_3488del NP_009231.2:p.Lys1160IlefsTer?
NR_027676.1:n.3615_3624del
NM_007294.4:c.3479_3488del MANE Select NP_009225.1:p.Lys1160IlefsTer?
NM_007297.4:c.3338_3347del NP_009228.2:p.Lys1113IlefsTer?
NM_007299.4:c.788-1020_788-1011del NP_009230.2:n.788-1020_788-1011del
NM_007300.4:c.3479_3488del NP_009231.2:p.Lys1160IlefsTer?
NR_027676.2:n.3656_3665del