Canonical Allele Identifier: CA002124
Community Standard Title: NM_007294.4(BRCA1):c.3292_3293del (p.Leu1098SerfsTer4)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092239_43092240del , CM000679.2:g.43092239_43092240del GRCh38
NC_000017.10:g.41244256_41244257del , CM000679.1:g.41244256_41244257del GRCh37
NC_000017.9:g.38497782_38497783del NCBI36
NG_005905.2:g.125745_125746del , LRG_292:g.125745_125746del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.3292_3293del MANE Select NP_009225.1:p.Leu1098SerfsTer4
ENST00000357654.9:c.3292_3293del MANE Select ENSP00000350283.3:p.Leu1098SerfsTer4
NM_007294.3:c.3292_3293del , LRG_292t1:c.3292_3293del NP_009225.1:p.Leu1098SerfsTer4
NM_007297.3:c.3151_3152del NP_009228.2:p.Leu1051SerfsTer4
NM_007297.4:c.3151_3152del NP_009228.2:p.Leu1051SerfsTer4
NM_007298.3:c.788-1207_788-1206del NP_009229.2:n.788-1207_788-1206del
NM_007299.3:c.788-1207_788-1206del NP_009230.2:n.788-1207_788-1206del
NM_007299.4:c.788-1207_788-1206del NP_009230.2:n.788-1207_788-1206del
NM_007300.3:c.3292_3293del NP_009231.2:p.Leu1098SerfsTer4
NM_007300.4:c.3292_3293del NP_009231.2:p.Leu1098SerfsTer4
NR_027676.1:n.3428_3429del
NR_027676.2:n.3469_3470del
ENST00000352993.7:c.671-1207_671-1206del ENSP00000312236.5:n.671-1207_671-1206del
ENST00000354071.7:c.3292_3293del ENSP00000326002.7:p.Leu1098SerfsTer4
ENST00000354071.8:n.3356_3357del
ENST00000357654.7:c.3292_3293del ENSP00000350283.3:p.Leu1098SerfsTer4
ENST00000461221.5:c.*3075_*3076del ENSP00000418548.1:n.*3075_*3076del
ENST00000461574.2:c.3292_3293del ENSP00000417241.2:p.Leu1098SerfsTer4
ENST00000468300.5:c.788-1207_788-1206del ENSP00000417148.1:n.788-1207_788-1206del
ENST00000470026.6:c.3292_3293del ENSP00000419274.2:p.Leu1098SerfsTer4
ENST00000471181.6:c.3292_3293del ENSP00000418960.2:p.Leu1098SerfsTer4
ENST00000471181.7:c.3292_3293del ENSP00000418960.2:p.Leu1098SerfsTer4
ENST00000473961.6:c.3166_3167del ENSP00000420201.2:p.Leu1056SerfsTer4
ENST00000476777.6:c.3289_3290del ENSP00000417554.2:p.Leu1097SerfsTer4
ENST00000477152.6:c.3214_3215del ENSP00000419988.2:p.Leu1072SerfsTer4
ENST00000478531.5:c.785-1207_785-1206del ENSP00000420412.1:n.785-1207_785-1206del
ENST00000478531.6:c.785-1207_785-1206del ENSP00000420412.2:n.785-1207_785-1206del
ENST00000484087.5:c.410-1207_410-1206del ENSP00000419481.1:n.410-1207_410-1206del
ENST00000484087.6:c.665-1207_665-1206del ENSP00000419481.2:n.665-1207_665-1206del
ENST00000487825.5:c.413-1207_413-1206del ENSP00000418212.1:n.413-1207_413-1206del
ENST00000489037.2:c.3214_3215del ENSP00000420781.2:p.Leu1072SerfsTer4
ENST00000491747.6:c.788-1207_788-1206del ENSP00000420705.2:n.788-1207_788-1206del
ENST00000493795.5:c.3151_3152del ENSP00000418775.1:p.Leu1051SerfsTer4
ENST00000493919.5:c.647-1207_647-1206del ENSP00000418819.1:n.647-1207_647-1206del
ENST00000493919.6:c.647-1207_647-1206del ENSP00000418819.2:n.647-1207_647-1206del
ENST00000494123.6:c.3292_3293del ENSP00000419103.2:p.Leu1098SerfsTer4
ENST00000497488.2:c.2404_2405del ENSP00000418986.2:p.Leu802SerfsTer4
ENST00000586385.5:c.5-28288_5-28287del ENSP00000465818.1:n.5-28288_5-28287del
ENST00000591534.5:c.-43-17718_-43-17717del ENSP00000467329.1:n.-43-17718_-43-17717del
ENST00000591849.5:c.-99+33032_-99+33033del ENSP00000465347.1:n.-99+33032_-99+33033del
ENST00000618469.2:c.3292_3293del ENSP00000478114.2:p.Leu1098SerfsTer4
ENST00000634433.2:c.3169_3170del ENSP00000489431.2:p.Leu1057SerfsTer4
ENST00000644379.2:c.3292_3293del ENSP00000496570.2:p.Leu1098SerfsTer4
ENST00000644555.2:c.647-1207_647-1206del ENSP00000494614.2:n.647-1207_647-1206del
ENST00000652672.2:c.3151_3152del ENSP00000498906.2:p.Leu1051SerfsTer4
ENST00000700182.1:c.707-1207_707-1206del ENSP00000514849.1:n.707-1207_707-1206del