Canonical Allele Identifier: CA2830850680
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092433_43093437dup , CM000679.2:g.43092433_43093437dup GRCh38
NC_000017.10:g.41244450_41245454dup , CM000679.1:g.41244450_41245454dup GRCh37
NC_000017.9:g.38497976_38498980dup NCBI36
NG_005905.2:g.124548_125552dup , LRG_292:g.124548_125552dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.2159_3163dup
ENST00000461574.2:c.2095_3099dup ENSP00000417241.2:p.Glu1033_Asn1034insGluLeuLysLeuThrAsnAlaPr...
ENST00000470026.6:c.2095_3099dup ENSP00000419274.2:p.Glu1033_Asn1034insGluLeuLysLeuThrAsnAlaPr...
ENST00000473961.6:c.1969_2973dup ENSP00000420201.2:p.Glu991_Asn992insGluLeuLysLeuThrAsnAlaProG...
ENST00000476777.6:c.2092_3096dup ENSP00000417554.2:p.Glu1032_Asn1033insGluLeuLysLeuThrAsnAlaPr...
ENST00000477152.6:c.2017_3021dup ENSP00000419988.2:p.Glu1007_Asn1008insGluLeuLysLeuThrAsnAlaPr...
ENST00000478531.6:c.784+1308_785-1400dup ENSP00000420412.2:n.784+1308_785-1400dup
ENST00000489037.2:c.2017_3021dup ENSP00000420781.2:p.Glu1007_Asn1008insGluLeuLysLeuThrAsnAlaPr...
ENST00000493919.6:c.646+1308_647-1400dup ENSP00000418819.2:n.646+1308_647-1400dup
ENST00000494123.6:c.2095_3099dup ENSP00000419103.2:p.Glu1033_Asn1034insGluLeuLysLeuThrAsnAlaPr...
ENST00000497488.2:c.1207_2211dup ENSP00000418986.2:p.Glu737_Asn738insGluLeuLysLeuThrAsnAlaProG...
ENST00000618469.2:c.2095_3099dup ENSP00000478114.2:p.Glu1033_Asn1034insGluLeuLysLeuThrAsnAlaPr...
ENST00000634433.2:c.1972_2976dup ENSP00000489431.2:p.Glu992_Asn993insGluLeuLysLeuThrAsnAlaProG...
ENST00000644379.2:c.2095_3099dup ENSP00000496570.2:p.Glu1033_Asn1034insGluLeuLysLeuThrAsnAlaPr...
ENST00000644555.2:c.646+1308_647-1400dup ENSP00000494614.2:n.646+1308_647-1400dup
ENST00000652672.2:c.1954_2958dup ENSP00000498906.2:p.Glu986_Asn987insGluLeuLysLeuThrAsnAlaProG...
ENST00000484087.6:c.664+1308_665-1400dup ENSP00000419481.2:n.664+1308_665-1400dup
ENST00000700182.1:c.706+1308_707-1400dup ENSP00000514849.1:n.706+1308_707-1400dup
ENST00000357654.9:c.2095_3099dup MANE Select ENSP00000350283.3:p.Glu1033_Asn1034insGluLeuLysLeuThrAsnAlaPr...
ENST00000471181.7:c.2095_3099dup ENSP00000418960.2:p.Glu1033_Asn1034insGluLeuLysLeuThrAsnAlaPr...
ENST00000352993.7:c.671-2404_671-1400dup ENSP00000312236.5:n.671-2404_671-1400dup
ENST00000354071.7:c.2095_3099dup ENSP00000326002.7:p.Glu1033_Asn1034insGluLeuLysLeuThrAsnAlaPr...
ENST00000357654.7:c.2095_3099dup ENSP00000350283.3:p.Glu1033_Asn1034insGluLeuLysLeuThrAsnAlaPr...
ENST00000461221.5:c.*1878_*2882dup ENSP00000418548.1:n.*1878_*2882dup
ENST00000468300.5:c.787+1308_788-1400dup ENSP00000417148.1:n.787+1308_788-1400dup
ENST00000471181.6:c.2095_3099dup ENSP00000418960.2:p.Glu1033_Asn1034insGluLeuLysLeuThrAsnAlaPr...
ENST00000478531.5:c.784+1308_785-1400dup ENSP00000420412.1:n.784+1308_785-1400dup
ENST00000484087.5:c.409+1308_410-1400dup ENSP00000419481.1:n.409+1308_410-1400dup
ENST00000487825.5:c.412+1308_413-1400dup ENSP00000418212.1:n.412+1308_413-1400dup
ENST00000491747.6:c.787+1308_788-1400dup ENSP00000420705.2:n.787+1308_788-1400dup
ENST00000493795.5:c.1954_2958dup ENSP00000418775.1:p.Glu986_Asn987insGluLeuLysLeuThrAsnAlaProG...
ENST00000493919.5:c.646+1308_647-1400dup ENSP00000418819.1:n.646+1308_647-1400dup
ENST00000586385.5:c.5-29485_5-28481dup ENSP00000465818.1:n.5-29485_5-28481dup
ENST00000591534.5:c.-43-18915_-43-17911dup ENSP00000467329.1:n.-43-18915_-43-17911dup
ENST00000591849.5:c.-99+31835_-99+32839dup ENSP00000465347.1:n.-99+31835_-99+32839dup
NM_007294.3:c.2095_3099dup , LRG_292t1:c.2095_3099dup NP_009225.1:p.Glu1033_Asn1034insGluLeuLysLeuThrAsnAlaProGlySe...
NM_007297.3:c.1954_2958dup NP_009228.2:p.Glu986_Asn987insGluLeuLysLeuThrAsnAlaProGlySerP...
NM_007298.3:c.787+1308_788-1400dup NP_009229.2:n.787+1308_788-1400dup
NM_007299.3:c.787+1308_788-1400dup NP_009230.2:n.787+1308_788-1400dup
NM_007300.3:c.2095_3099dup NP_009231.2:p.Glu1033_Asn1034insGluLeuLysLeuThrAsnAlaProGlySe...
NR_027676.1:n.2231_3235dup
NM_007294.4:c.2095_3099dup MANE Select NP_009225.1:p.Glu1033_Asn1034insGluLeuLysLeuThrAsnAlaProGlySe...
NM_007297.4:c.1954_2958dup NP_009228.2:p.Glu986_Asn987insGluLeuLysLeuThrAsnAlaProGlySerP...
NM_007299.4:c.787+1308_788-1400dup NP_009230.2:n.787+1308_788-1400dup
NM_007300.4:c.2095_3099dup NP_009231.2:p.Glu1033_Asn1034insGluLeuLysLeuThrAsnAlaProGlySe...
NR_027676.2:n.2272_3276dup