Canonical Allele Identifier: CA2260782858
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092358_43092379delinsATACTGGAGCCCACTTCATTAG , CM000679.2:g.43092358_43092379delinsATACTGGAGCCCACTTCATTAG GRCh38
NC_000017.10:g.41244375_41244396delinsATACTGGAGCCCACTTCATTAG , CM000679.1:g.41244375_41244396delinsATACTGGAGCCCACTTCATTAG GRCh37
NC_000017.9:g.38497901_38497922delinsATACTGGAGCCCACTTCATTAG NCBI36
NG_005905.2:g.125605_125626delinsCTAATGAAGTGGGCTCCAGTAT , LRG_292:g.125605_125626delinsCTAATGAAGTGGGCTCCAGTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3216_3237delinsCTAATGAAGTGGGCTCCAGTAT
ENST00000461574.2:c.3152_3173delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000417241.2:p.Thr1051=
ENST00000470026.6:c.3152_3173delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000419274.2:p.Thr1051=
ENST00000473961.6:c.3026_3047delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000420201.2:p.Thr1009=
ENST00000476777.6:c.3149_3170delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000417554.2:p.Thr1050=
ENST00000477152.6:c.3074_3095delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000419988.2:p.Thr1025=
ENST00000478531.6:c.785-1347_785-1326delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000420412.2:n.785-1347_785-1326delinsCTAATGAAGTGGGCTCCA...
ENST00000489037.2:c.3074_3095delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000420781.2:p.Thr1025=
ENST00000493919.6:c.647-1347_647-1326delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000418819.2:n.647-1347_647-1326delinsCTAATGAAGTGGGCTCCA...
ENST00000494123.6:c.3152_3173delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000419103.2:p.Thr1051=
ENST00000497488.2:c.2264_2285delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000418986.2:p.Thr755=
ENST00000618469.2:c.3152_3173delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000478114.2:p.Thr1051=
ENST00000634433.2:c.3029_3050delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000489431.2:p.Thr1010=
ENST00000644379.2:c.3152_3173delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000496570.2:p.Thr1051=
ENST00000644555.2:c.647-1347_647-1326delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000494614.2:n.647-1347_647-1326delinsCTAATGAAGTGGGCTCCA...
ENST00000652672.2:c.3011_3032delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000498906.2:p.Thr1004=
ENST00000484087.6:c.665-1347_665-1326delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000419481.2:n.665-1347_665-1326delinsCTAATGAAGTGGGCTCCA...
ENST00000700182.1:c.707-1347_707-1326delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000514849.1:n.707-1347_707-1326delinsCTAATGAAGTGGGCTCCA...
ENST00000357654.9:c.3152_3173delinsCTAATGAAGTGGGCTCCAGTAT MANE Select ENSP00000350283.3:p.Thr1051=
ENST00000471181.7:c.3152_3173delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000418960.2:p.Thr1051=
ENST00000352993.7:c.671-1347_671-1326delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000312236.5:n.671-1347_671-1326delinsCTAATGAAGTGGGCTCCA...
ENST00000354071.7:c.3152_3173delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000326002.7:p.Thr1051=
ENST00000357654.7:c.3152_3173delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000350283.3:p.Thr1051=
ENST00000461221.5:c.*2935_*2956delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000418548.1:n.*2935_*2956delinsCTAATGAAGTGGGCTCCAGTAT
ENST00000468300.5:c.788-1347_788-1326delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000417148.1:n.788-1347_788-1326delinsCTAATGAAGTGGGCTCCA...
ENST00000471181.6:c.3152_3173delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000418960.2:p.Thr1051=
ENST00000478531.5:c.785-1347_785-1326delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000420412.1:n.785-1347_785-1326delinsCTAATGAAGTGGGCTCCA...
ENST00000484087.5:c.410-1347_410-1326delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000419481.1:n.410-1347_410-1326delinsCTAATGAAGTGGGCTCCA...
ENST00000487825.5:c.413-1347_413-1326delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000418212.1:n.413-1347_413-1326delinsCTAATGAAGTGGGCTCCA...
ENST00000491747.6:c.788-1347_788-1326delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000420705.2:n.788-1347_788-1326delinsCTAATGAAGTGGGCTCCA...
ENST00000493795.5:c.3011_3032delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000418775.1:p.Thr1004=
ENST00000493919.5:c.647-1347_647-1326delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000418819.1:n.647-1347_647-1326delinsCTAATGAAGTGGGCTCCA...
ENST00000586385.5:c.5-28428_5-28407delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000465818.1:n.5-28428_5-28407delinsCTAATGAAGTGGGCTCCAGT...
ENST00000591534.5:c.-43-17858_-43-17837delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000467329.1:n.-43-17858_-43-17837delinsCTAATGAAGTGGGCTC...
ENST00000591849.5:c.-99+32892_-99+32913delinsCTAATGAAGTGGGCTCCAGTAT ENSP00000465347.1:n.-99+32892_-99+32913delinsCTAATGAAGTGGGCTC...
NM_007294.3:c.3152_3173delinsCTAATGAAGTGGGCTCCAGTAT , LRG_292t1:c.3152_3173delinsCTAATGAAGTGGGCTCCAGTAT NP_009225.1:p.Thr1051=
NM_007297.3:c.3011_3032delinsCTAATGAAGTGGGCTCCAGTAT NP_009228.2:p.Thr1004=
NM_007298.3:c.788-1347_788-1326delinsCTAATGAAGTGGGCTCCAGTAT NP_009229.2:n.788-1347_788-1326delinsCTAATGAAGTGGGCTCCAGTAT
NM_007299.3:c.788-1347_788-1326delinsCTAATGAAGTGGGCTCCAGTAT NP_009230.2:n.788-1347_788-1326delinsCTAATGAAGTGGGCTCCAGTAT
NM_007300.3:c.3152_3173delinsCTAATGAAGTGGGCTCCAGTAT NP_009231.2:p.Thr1051=
NR_027676.1:n.3288_3309delinsCTAATGAAGTGGGCTCCAGTAT
NM_007294.4:c.3152_3173delinsCTAATGAAGTGGGCTCCAGTAT MANE Select NP_009225.1:p.Thr1051=
NM_007297.4:c.3011_3032delinsCTAATGAAGTGGGCTCCAGTAT NP_009228.2:p.Thr1004=
NM_007299.4:c.788-1347_788-1326delinsCTAATGAAGTGGGCTCCAGTAT NP_009230.2:n.788-1347_788-1326delinsCTAATGAAGTGGGCTCCAGTAT
NM_007300.4:c.3152_3173delinsCTAATGAAGTGGGCTCCAGTAT NP_009231.2:p.Thr1051=
NR_027676.2:n.3329_3350delinsCTAATGAAGTGGGCTCCAGTAT