Canonical Allele Identifier: CA002042
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54774
ClinVar RCV Id: RCV000577640 RCV000661215
dbSNP Id: rs397509036
MyVariant Identifiers: chr17:g.41244414_41244423del (hg19) chr17:g.43092397_43092406del (hg38)
PubMed: PMID:22655046
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092399_43092408del , CM000679.2:g.43092399_43092408del GRCh38
NC_000017.10:g.41244416_41244425del , CM000679.1:g.41244416_41244425del GRCh37
NC_000017.9:g.38497942_38497951del NCBI36
NG_005905.2:g.125578_125587del , LRG_292:g.125578_125587del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3189_3198del
ENST00000461574.2:c.3125_3134del ENSP00000417241.2:p.Ser1042MetfsTer3
ENST00000470026.6:c.3125_3134del ENSP00000419274.2:p.Ser1042MetfsTer3
ENST00000473961.6:c.2999_3008del ENSP00000420201.2:p.Ser1000MetfsTer3
ENST00000476777.6:c.3122_3131del ENSP00000417554.2:p.Ser1041MetfsTer3
ENST00000477152.6:c.3047_3056del ENSP00000419988.2:p.Ser1016MetfsTer3
ENST00000478531.6:c.785-1374_785-1365del ENSP00000420412.2:n.785-1374_785-1365del
ENST00000489037.2:c.3047_3056del ENSP00000420781.2:p.Ser1016MetfsTer3
ENST00000493919.6:c.647-1374_647-1365del ENSP00000418819.2:n.647-1374_647-1365del
ENST00000494123.6:c.3125_3134del ENSP00000419103.2:p.Ser1042MetfsTer3
ENST00000497488.2:c.2237_2246del ENSP00000418986.2:p.Ser746MetfsTer3
ENST00000618469.2:c.3125_3134del ENSP00000478114.2:p.Ser1042MetfsTer3
ENST00000634433.2:c.3002_3011del ENSP00000489431.2:p.Ser1001MetfsTer3
ENST00000644379.2:c.3125_3134del ENSP00000496570.2:p.Ser1042MetfsTer3
ENST00000644555.2:c.647-1374_647-1365del ENSP00000494614.2:n.647-1374_647-1365del
ENST00000652672.2:c.2984_2993del ENSP00000498906.2:p.Ser995MetfsTer3
ENST00000484087.6:c.665-1374_665-1365del ENSP00000419481.2:n.665-1374_665-1365del
ENST00000700182.1:c.707-1374_707-1365del ENSP00000514849.1:n.707-1374_707-1365del
ENST00000357654.9:c.3125_3134del MANE Select ENSP00000350283.3:p.Ser1042MetfsTer3
ENST00000471181.7:c.3125_3134del ENSP00000418960.2:p.Ser1042MetfsTer3
ENST00000352993.7:c.671-1374_671-1365del ENSP00000312236.5:n.671-1374_671-1365del
ENST00000354071.7:c.3125_3134del ENSP00000326002.7:p.Ser1042MetfsTer3
ENST00000357654.7:c.3125_3134del ENSP00000350283.3:p.Ser1042MetfsTer3
ENST00000461221.5:c.*2908_*2917del ENSP00000418548.1:n.*2908_*2917del
ENST00000468300.5:c.788-1374_788-1365del ENSP00000417148.1:n.788-1374_788-1365del
ENST00000471181.6:c.3125_3134del ENSP00000418960.2:p.Ser1042MetfsTer3
ENST00000478531.5:c.785-1374_785-1365del ENSP00000420412.1:n.785-1374_785-1365del
ENST00000484087.5:c.410-1374_410-1365del ENSP00000419481.1:n.410-1374_410-1365del
ENST00000487825.5:c.413-1374_413-1365del ENSP00000418212.1:n.413-1374_413-1365del
ENST00000491747.6:c.788-1374_788-1365del ENSP00000420705.2:n.788-1374_788-1365del
ENST00000493795.5:c.2984_2993del ENSP00000418775.1:p.Ser995MetfsTer3
ENST00000493919.5:c.647-1374_647-1365del ENSP00000418819.1:n.647-1374_647-1365del
ENST00000586385.5:c.5-28455_5-28446del ENSP00000465818.1:n.5-28455_5-28446del
ENST00000591534.5:c.-43-17885_-43-17876del ENSP00000467329.1:n.-43-17885_-43-17876del
ENST00000591849.5:c.-99+32865_-99+32874del ENSP00000465347.1:n.-99+32865_-99+32874del
NM_007294.3:c.3125_3134del , LRG_292t1:c.3125_3134del NP_009225.1:p.Ser1042MetfsTer3
NM_007297.3:c.2984_2993del NP_009228.2:p.Ser995MetfsTer3
NM_007298.3:c.788-1374_788-1365del NP_009229.2:n.788-1374_788-1365del
NM_007299.3:c.788-1374_788-1365del NP_009230.2:n.788-1374_788-1365del
NM_007300.3:c.3125_3134del NP_009231.2:p.Ser1042MetfsTer3
NR_027676.1:n.3261_3270del
NM_007294.4:c.3125_3134del MANE Select NP_009225.1:p.Ser1042MetfsTer3
NM_007297.4:c.2984_2993del NP_009228.2:p.Ser995MetfsTer3
NM_007299.4:c.788-1374_788-1365del NP_009230.2:n.788-1374_788-1365del
NM_007300.4:c.3125_3134del NP_009231.2:p.Ser1042MetfsTer3
NR_027676.2:n.3302_3311del
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