Canonical Allele Identifier: CA2260782800
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092292_43092300delinsAATTTTGGC , CM000679.2:g.43092292_43092300delinsAATTTTGGC GRCh38
NC_000017.10:g.41244309_41244317delinsAATTTTGGC , CM000679.1:g.41244309_41244317delinsAATTTTGGC GRCh37
NC_000017.9:g.38497835_38497843delinsAATTTTGGC NCBI36
NG_005905.2:g.125684_125692delinsGCCAAAATT , LRG_292:g.125684_125692delinsGCCAAAATT

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3295_3303delinsGCCAAAATT
ENST00000461574.2:c.3231_3239delinsGCCAAAATT ENSP00000417241.2:p.Gly1077=
ENST00000470026.6:c.3231_3239delinsGCCAAAATT ENSP00000419274.2:p.Gly1077=
ENST00000473961.6:c.3105_3113delinsGCCAAAATT ENSP00000420201.2:p.Gly1035=
ENST00000476777.6:c.3228_3236delinsGCCAAAATT ENSP00000417554.2:p.Gly1076=
ENST00000477152.6:c.3153_3161delinsGCCAAAATT ENSP00000419988.2:p.Gly1051=
ENST00000478531.6:c.785-1268_785-1260delinsGCCAAAATT ENSP00000420412.2:n.785-1268_785-1260deli...
ENST00000489037.2:c.3153_3161delinsGCCAAAATT ENSP00000420781.2:p.Gly1051=
ENST00000493919.6:c.647-1268_647-1260delinsGCCAAAATT ENSP00000418819.2:n.647-1268_647-1260deli...
ENST00000494123.6:c.3231_3239delinsGCCAAAATT ENSP00000419103.2:p.Gly1077=
ENST00000497488.2:c.2343_2351delinsGCCAAAATT ENSP00000418986.2:p.Gly781=
ENST00000618469.2:c.3231_3239delinsGCCAAAATT ENSP00000478114.2:p.Gly1077=
ENST00000634433.2:c.3108_3116delinsGCCAAAATT ENSP00000489431.2:p.Gly1036=
ENST00000644379.2:c.3231_3239delinsGCCAAAATT ENSP00000496570.2:p.Gly1077=
ENST00000644555.2:c.647-1268_647-1260delinsGCCAAAATT ENSP00000494614.2:n.647-1268_647-1260deli...
ENST00000652672.2:c.3090_3098delinsGCCAAAATT ENSP00000498906.2:p.Gly1030=
ENST00000484087.6:c.665-1268_665-1260delinsGCCAAAATT ENSP00000419481.2:n.665-1268_665-1260deli...
ENST00000700182.1:c.707-1268_707-1260delinsGCCAAAATT ENSP00000514849.1:n.707-1268_707-1260deli...
ENST00000357654.9:c.3231_3239delinsGCCAAAATT MANE Select ENSP00000350283.3:p.Gly1077=
ENST00000471181.7:c.3231_3239delinsGCCAAAATT ENSP00000418960.2:p.Gly1077=
ENST00000352993.7:c.671-1268_671-1260delinsGCCAAAATT ENSP00000312236.5:n.671-1268_671-1260deli...
ENST00000354071.7:c.3231_3239delinsGCCAAAATT ENSP00000326002.7:p.Gly1077=
ENST00000357654.7:c.3231_3239delinsGCCAAAATT ENSP00000350283.3:p.Gly1077=
ENST00000461221.5:c.*3014_*3022delinsGCCAAAATT ENSP00000418548.1:n.*3014_*3022delinsGCCA...
ENST00000468300.5:c.788-1268_788-1260delinsGCCAAAATT ENSP00000417148.1:n.788-1268_788-1260deli...
ENST00000471181.6:c.3231_3239delinsGCCAAAATT ENSP00000418960.2:p.Gly1077=
ENST00000478531.5:c.785-1268_785-1260delinsGCCAAAATT ENSP00000420412.1:n.785-1268_785-1260deli...
ENST00000484087.5:c.410-1268_410-1260delinsGCCAAAATT ENSP00000419481.1:n.410-1268_410-1260deli...
ENST00000487825.5:c.413-1268_413-1260delinsGCCAAAATT ENSP00000418212.1:n.413-1268_413-1260deli...
ENST00000491747.6:c.788-1268_788-1260delinsGCCAAAATT ENSP00000420705.2:n.788-1268_788-1260deli...
ENST00000493795.5:c.3090_3098delinsGCCAAAATT ENSP00000418775.1:p.Gly1030=
ENST00000493919.5:c.647-1268_647-1260delinsGCCAAAATT ENSP00000418819.1:n.647-1268_647-1260deli...
ENST00000586385.5:c.5-28349_5-28341delinsGCCAAAATT ENSP00000465818.1:n.5-28349_5-28341delins...
ENST00000591534.5:c.-43-17779_-43-17771delinsGCCAAAATT ENSP00000467329.1:n.-43-17779_-43-17771de...
ENST00000591849.5:c.-99+32971_-99+32979delinsGCCAAAATT ENSP00000465347.1:n.-99+32971_-99+32979de...
NM_007294.3:c.3231_3239delinsGCCAAAATT , LRG_292t1:c.3231_3239delinsGCCAAAATT NP_009225.1:p.Gly1077=
NM_007297.3:c.3090_3098delinsGCCAAAATT NP_009228.2:p.Gly1030=
NM_007298.3:c.788-1268_788-1260delinsGCCAAAATT NP_009229.2:n.788-1268_788-1260delinsGCCA...
NM_007299.3:c.788-1268_788-1260delinsGCCAAAATT NP_009230.2:n.788-1268_788-1260delinsGCCA...
NM_007300.3:c.3231_3239delinsGCCAAAATT NP_009231.2:p.Gly1077=
NR_027676.1:n.3367_3375delinsGCCAAAATT
NM_007294.4:c.3231_3239delinsGCCAAAATT MANE Select NP_009225.1:p.Gly1077=
NM_007297.4:c.3090_3098delinsGCCAAAATT NP_009228.2:p.Gly1030=
NM_007299.4:c.788-1268_788-1260delinsGCCAAAATT NP_009230.2:n.788-1268_788-1260delinsGCCA...
NM_007300.4:c.3231_3239delinsGCCAAAATT NP_009231.2:p.Gly1077=
NR_027676.2:n.3408_3416delinsGCCAAAATT