Canonical Allele Identifier: CA645373183
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1135401859

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092285_43092289del , CM000679.2:g.43092285_43092289del GRCh38
NC_000017.10:g.41244302_41244306del , CM000679.1:g.41244302_41244306del GRCh37
NC_000017.9:g.38497828_38497832del NCBI36
NG_005905.2:g.125700_125704del , LRG_292:g.125700_125704del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3311_3315del
ENST00000461574.2:c.3247_3251del ENSP00000417241.2:p.Met1083Ter
ENST00000470026.6:c.3247_3251del ENSP00000419274.2:p.Met1083Ter
ENST00000473961.6:c.3121_3125del ENSP00000420201.2:p.Met1041Ter
ENST00000476777.6:c.3244_3248del ENSP00000417554.2:p.Met1082Ter
ENST00000477152.6:c.3169_3173del ENSP00000419988.2:p.Met1057Ter
ENST00000478531.6:c.785-1252_785-1248del ENSP00000420412.2:n.785-1252_785-1248del
ENST00000489037.2:c.3169_3173del ENSP00000420781.2:p.Met1057Ter
ENST00000493919.6:c.647-1252_647-1248del ENSP00000418819.2:n.647-1252_647-1248del
ENST00000494123.6:c.3247_3251del ENSP00000419103.2:p.Met1083Ter
ENST00000497488.2:c.2359_2363del ENSP00000418986.2:p.Met787Ter
ENST00000618469.2:c.3247_3251del ENSP00000478114.2:p.Met1083Ter
ENST00000634433.2:c.3124_3128del ENSP00000489431.2:p.Met1042Ter
ENST00000644379.2:c.3247_3251del ENSP00000496570.2:p.Met1083Ter
ENST00000644555.2:c.647-1252_647-1248del ENSP00000494614.2:n.647-1252_647-1248del
ENST00000652672.2:c.3106_3110del ENSP00000498906.2:p.Met1036Ter
ENST00000484087.6:c.665-1252_665-1248del ENSP00000419481.2:n.665-1252_665-1248del
ENST00000700182.1:c.707-1252_707-1248del ENSP00000514849.1:n.707-1252_707-1248del
ENST00000357654.9:c.3247_3251del MANE Select ENSP00000350283.3:p.Met1083Ter
ENST00000471181.7:c.3247_3251del ENSP00000418960.2:p.Met1083Ter
ENST00000352993.7:c.671-1252_671-1248del ENSP00000312236.5:n.671-1252_671-1248del
ENST00000354071.7:c.3247_3251del ENSP00000326002.7:p.Met1083Ter
ENST00000357654.7:c.3247_3251del ENSP00000350283.3:p.Met1083Ter
ENST00000461221.5:c.*3030_*3034del ENSP00000418548.1:n.*3030_*3034del
ENST00000468300.5:c.788-1252_788-1248del ENSP00000417148.1:n.788-1252_788-1248del
ENST00000471181.6:c.3247_3251del ENSP00000418960.2:p.Met1083Ter
ENST00000478531.5:c.785-1252_785-1248del ENSP00000420412.1:n.785-1252_785-1248del
ENST00000484087.5:c.410-1252_410-1248del ENSP00000419481.1:n.410-1252_410-1248del
ENST00000487825.5:c.413-1252_413-1248del ENSP00000418212.1:n.413-1252_413-1248del
ENST00000491747.6:c.788-1252_788-1248del ENSP00000420705.2:n.788-1252_788-1248del
ENST00000493795.5:c.3106_3110del ENSP00000418775.1:p.Met1036Ter
ENST00000493919.5:c.647-1252_647-1248del ENSP00000418819.1:n.647-1252_647-1248del
ENST00000586385.5:c.5-28333_5-28329del ENSP00000465818.1:n.5-28333_5-28329del
ENST00000591534.5:c.-43-17763_-43-17759del ENSP00000467329.1:n.-43-17763_-43-17759de...
ENST00000591849.5:c.-99+32987_-99+32991del ENSP00000465347.1:n.-99+32987_-99+32991de...
NM_007294.3:c.3247_3251del , LRG_292t1:c.3247_3251del NP_009225.1:p.Met1083Ter
NM_007297.3:c.3106_3110del NP_009228.2:p.Met1036Ter
NM_007298.3:c.788-1252_788-1248del NP_009229.2:n.788-1252_788-1248del
NM_007299.3:c.788-1252_788-1248del NP_009230.2:n.788-1252_788-1248del
NM_007300.3:c.3247_3251del NP_009231.2:p.Met1083Ter
NR_027676.1:n.3383_3387del
NM_007294.4:c.3247_3251del MANE Select NP_009225.1:p.Met1083Ter
NM_007297.4:c.3106_3110del NP_009228.2:p.Met1036Ter
NM_007299.4:c.788-1252_788-1248del NP_009230.2:n.788-1252_788-1248del
NM_007300.4:c.3247_3251del NP_009231.2:p.Met1083Ter
NR_027676.2:n.3424_3428del