Canonical Allele Identifier: CA002615
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55102
dbSNP Id: rs397509138

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091438del , CM000679.2:g.43091438del GRCh38
NC_000017.10:g.41243455del , CM000679.1:g.41243455del GRCh37
NC_000017.9:g.38496981del NCBI36
NG_005905.2:g.126547del , LRG_292:g.126547del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4158del
ENST00000461574.2:c.4094del ENSP00000417241.2:p.Leu1365Ter
ENST00000470026.6:c.4094del ENSP00000419274.2:p.Leu1365Ter
ENST00000473961.6:c.3968del ENSP00000420201.2:p.Leu1323Ter
ENST00000476777.6:c.4091del ENSP00000417554.2:p.Leu1364Ter
ENST00000477152.6:c.4016del ENSP00000419988.2:p.Leu1339Ter
ENST00000478531.6:c.785-405del ENSP00000420412.2:n.785-405del
ENST00000489037.2:c.4016del ENSP00000420781.2:p.Leu1339Ter
ENST00000493919.6:c.647-405del ENSP00000418819.2:n.647-405del
ENST00000494123.6:c.4094del ENSP00000419103.2:p.Leu1365Ter
ENST00000497488.2:c.3206del ENSP00000418986.2:p.Leu1069Ter
ENST00000618469.2:c.4094del ENSP00000478114.2:p.Leu1365Ter
ENST00000634433.2:c.3971del ENSP00000489431.2:p.Leu1324Ter
ENST00000644379.2:c.4094del ENSP00000496570.2:p.Leu1365Ter
ENST00000644555.2:c.647-405del ENSP00000494614.2:n.647-405del
ENST00000652672.2:c.3953del ENSP00000498906.2:p.Leu1318Ter
ENST00000484087.6:c.665-405del ENSP00000419481.2:n.665-405del
ENST00000700182.1:c.707-405del ENSP00000514849.1:n.707-405del
ENST00000357654.9:c.4094del MANE Select ENSP00000350283.3:p.Leu1365Ter
ENST00000471181.7:c.4094del ENSP00000418960.2:p.Leu1365Ter
ENST00000644379.1:c.415del
ENST00000352993.7:c.671-405del ENSP00000312236.5:n.671-405del
ENST00000354071.7:c.4094del ENSP00000326002.7:p.Leu1365Ter
ENST00000357654.7:c.4094del ENSP00000350283.3:p.Leu1365Ter
ENST00000461221.5:c.*3877del ENSP00000418548.1:n.*3877del
ENST00000461574.1:c.388del
ENST00000468300.5:c.788-405del ENSP00000417148.1:n.788-405del
ENST00000471181.6:c.4094del ENSP00000418960.2:p.Leu1365Ter
ENST00000478531.5:c.785-405del ENSP00000420412.1:n.785-405del
ENST00000484087.5:c.410-405del ENSP00000419481.1:n.410-405del
ENST00000487825.5:c.413-405del ENSP00000418212.1:n.413-405del
ENST00000491747.6:c.788-405del ENSP00000420705.2:n.788-405del
ENST00000493795.5:c.3953del ENSP00000418775.1:p.Leu1318Ter
ENST00000493919.5:c.647-405del ENSP00000418819.1:n.647-405del
ENST00000586385.5:c.5-27486del ENSP00000465818.1:n.5-27486del
ENST00000591534.5:c.-43-16916del ENSP00000467329.1:n.-43-16916del
ENST00000591849.5:c.-99+33834del ENSP00000465347.1:n.-99+33834del
NM_007294.3:c.4094del , LRG_292t1:c.4094del NP_009225.1:p.Leu1365Ter
NM_007297.3:c.3953del NP_009228.2:p.Leu1318Ter
NM_007298.3:c.788-405del NP_009229.2:n.788-405del
NM_007299.3:c.788-405del NP_009230.2:n.788-405del
NM_007300.3:c.4094del NP_009231.2:p.Leu1365Ter
NR_027676.1:n.4230del
NM_007294.4:c.4094del MANE Select NP_009225.1:p.Leu1365Ter
NM_007297.4:c.3953del NP_009228.2:p.Leu1318Ter
NM_007299.4:c.788-405del NP_009230.2:n.788-405del
NM_007300.4:c.4094del NP_009231.2:p.Leu1365Ter
NR_027676.2:n.4271del