Canonical Allele Identifier: CA002150
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54841
dbSNP Id: rs80357525

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092201_43092202del , CM000679.2:g.43092201_43092202del GRCh38
NC_000017.10:g.41244218_41244219del , CM000679.1:g.41244218_41244219del GRCh37
NC_000017.9:g.38497744_38497745del NCBI36
NG_005905.2:g.125782_125783del , LRG_292:g.125782_125783del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3393_3394del
ENST00000461574.2:c.3329_3330del ENSP00000417241.2:p.Lys1110ThrfsTer4
ENST00000470026.6:c.3329_3330del ENSP00000419274.2:p.Lys1110ThrfsTer4
ENST00000473961.6:c.3203_3204del ENSP00000420201.2:p.Lys1068ThrfsTer4
ENST00000476777.6:c.3326_3327del ENSP00000417554.2:p.Lys1109ThrfsTer4
ENST00000477152.6:c.3251_3252del ENSP00000419988.2:p.Lys1084ThrfsTer4
ENST00000478531.6:c.785-1170_785-1169del ENSP00000420412.2:n.785-1170_785-1169del
ENST00000489037.2:c.3251_3252del ENSP00000420781.2:p.Lys1084ThrfsTer4
ENST00000493919.6:c.647-1170_647-1169del ENSP00000418819.2:n.647-1170_647-1169del
ENST00000494123.6:c.3329_3330del ENSP00000419103.2:p.Lys1110ThrfsTer4
ENST00000497488.2:c.2441_2442del ENSP00000418986.2:p.Lys814ThrfsTer4
ENST00000618469.2:c.3329_3330del ENSP00000478114.2:p.Lys1110ThrfsTer4
ENST00000634433.2:c.3206_3207del ENSP00000489431.2:p.Lys1069ThrfsTer4
ENST00000644379.2:c.3329_3330del ENSP00000496570.2:p.Lys1110ThrfsTer4
ENST00000644555.2:c.647-1170_647-1169del ENSP00000494614.2:n.647-1170_647-1169del
ENST00000652672.2:c.3188_3189del ENSP00000498906.2:p.Lys1063ThrfsTer4
ENST00000484087.6:c.665-1170_665-1169del ENSP00000419481.2:n.665-1170_665-1169del
ENST00000700182.1:c.707-1170_707-1169del ENSP00000514849.1:n.707-1170_707-1169del
ENST00000357654.9:c.3329_3330del MANE Select ENSP00000350283.3:p.Lys1110ThrfsTer4
ENST00000471181.7:c.3329_3330del ENSP00000418960.2:p.Lys1110ThrfsTer4
ENST00000352993.7:c.671-1170_671-1169del ENSP00000312236.5:n.671-1170_671-1169del
ENST00000354071.7:c.3329_3330del ENSP00000326002.7:p.Lys1110ThrfsTer4
ENST00000357654.7:c.3329_3330del ENSP00000350283.3:p.Lys1110ThrfsTer4
ENST00000461221.5:c.*3112_*3113del ENSP00000418548.1:n.*3112_*3113del
ENST00000468300.5:c.788-1170_788-1169del ENSP00000417148.1:n.788-1170_788-1169del
ENST00000471181.6:c.3329_3330del ENSP00000418960.2:p.Lys1110ThrfsTer4
ENST00000478531.5:c.785-1170_785-1169del ENSP00000420412.1:n.785-1170_785-1169del
ENST00000484087.5:c.410-1170_410-1169del ENSP00000419481.1:n.410-1170_410-1169del
ENST00000487825.5:c.413-1170_413-1169del ENSP00000418212.1:n.413-1170_413-1169del
ENST00000491747.6:c.788-1170_788-1169del ENSP00000420705.2:n.788-1170_788-1169del
ENST00000493795.5:c.3188_3189del ENSP00000418775.1:p.Lys1063ThrfsTer4
ENST00000493919.5:c.647-1170_647-1169del ENSP00000418819.1:n.647-1170_647-1169del
ENST00000586385.5:c.5-28251_5-28250del ENSP00000465818.1:n.5-28251_5-28250del
ENST00000591534.5:c.-43-17681_-43-17680del ENSP00000467329.1:n.-43-17681_-43-17680de...
ENST00000591849.5:c.-99+33069_-99+33070del ENSP00000465347.1:n.-99+33069_-99+33070de...
NM_007294.3:c.3329_3330del , LRG_292t1:c.3329_3330del NP_009225.1:p.Lys1110ThrfsTer4
NM_007297.3:c.3188_3189del NP_009228.2:p.Lys1063ThrfsTer4
NM_007298.3:c.788-1170_788-1169del NP_009229.2:n.788-1170_788-1169del
NM_007299.3:c.788-1170_788-1169del NP_009230.2:n.788-1170_788-1169del
NM_007300.3:c.3329_3330del NP_009231.2:p.Lys1110ThrfsTer4
NR_027676.1:n.3465_3466del
NM_007294.4:c.3329_3330del MANE Select NP_009225.1:p.Lys1110ThrfsTer4
NM_007297.4:c.3188_3189del NP_009228.2:p.Lys1063ThrfsTer4
NM_007299.4:c.788-1170_788-1169del NP_009230.2:n.788-1170_788-1169del
NM_007300.4:c.3329_3330del NP_009231.2:p.Lys1110ThrfsTer4
NR_027676.2:n.3506_3507del