Canonical Allele Identifier: CA2260783038
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092540_43092557delinsATTTTTCTTACATTTAGT , CM000679.2:g.43092540_43092557delinsATTTTTCTTACATTTAGT GRCh38
NC_000017.10:g.41244557_41244574delinsATTTTTCTTACATTTAGT , CM000679.1:g.41244557_41244574delinsATTTTTCTTACATTTAGT GRCh37
NC_000017.9:g.38498083_38498100delinsATTTTTCTTACATTTAGT NCBI36
NG_005905.2:g.125427_125444delinsACTAAATGTAAGAAAAAT , LRG_292:g.125427_125444delinsACTAAATGTAAGAAAAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3038_3055delinsACTAAATGTAAGAAAAAT
ENST00000461574.2:c.2974_2991delinsACTAAATGTAAGAAAAAT ENSP00000417241.2:p.Thr992=
ENST00000470026.6:c.2974_2991delinsACTAAATGTAAGAAAAAT ENSP00000419274.2:p.Thr992=
ENST00000473961.6:c.2848_2865delinsACTAAATGTAAGAAAAAT ENSP00000420201.2:p.Thr950=
ENST00000476777.6:c.2971_2988delinsACTAAATGTAAGAAAAAT ENSP00000417554.2:p.Thr991=
ENST00000477152.6:c.2896_2913delinsACTAAATGTAAGAAAAAT ENSP00000419988.2:p.Thr966=
ENST00000478531.6:c.785-1525_785-1508delinsACTAAATGTAAGAAAAAT ENSP00000420412.2:n.785-1525_785-1508delinsACTAAATGTAAGAAAAAT...
ENST00000489037.2:c.2896_2913delinsACTAAATGTAAGAAAAAT ENSP00000420781.2:p.Thr966=
ENST00000493919.6:c.647-1525_647-1508delinsACTAAATGTAAGAAAAAT ENSP00000418819.2:n.647-1525_647-1508delinsACTAAATGTAAGAAAAAT...
ENST00000494123.6:c.2974_2991delinsACTAAATGTAAGAAAAAT ENSP00000419103.2:p.Thr992=
ENST00000497488.2:c.2086_2103delinsACTAAATGTAAGAAAAAT ENSP00000418986.2:p.Thr696=
ENST00000618469.2:c.2974_2991delinsACTAAATGTAAGAAAAAT ENSP00000478114.2:p.Thr992=
ENST00000634433.2:c.2851_2868delinsACTAAATGTAAGAAAAAT ENSP00000489431.2:p.Thr951=
ENST00000644379.2:c.2974_2991delinsACTAAATGTAAGAAAAAT ENSP00000496570.2:p.Thr992=
ENST00000644555.2:c.647-1525_647-1508delinsACTAAATGTAAGAAAAAT ENSP00000494614.2:n.647-1525_647-1508delinsACTAAATGTAAGAAAAAT...
ENST00000652672.2:c.2833_2850delinsACTAAATGTAAGAAAAAT ENSP00000498906.2:p.Thr945=
ENST00000484087.6:c.665-1525_665-1508delinsACTAAATGTAAGAAAAAT ENSP00000419481.2:n.665-1525_665-1508delinsACTAAATGTAAGAAAAAT...
ENST00000700182.1:c.707-1525_707-1508delinsACTAAATGTAAGAAAAAT ENSP00000514849.1:n.707-1525_707-1508delinsACTAAATGTAAGAAAAAT...
ENST00000357654.9:c.2974_2991delinsACTAAATGTAAGAAAAAT MANE Select ENSP00000350283.3:p.Thr992=
ENST00000471181.7:c.2974_2991delinsACTAAATGTAAGAAAAAT ENSP00000418960.2:p.Thr992=
ENST00000352993.7:c.671-1525_671-1508delinsACTAAATGTAAGAAAAAT ENSP00000312236.5:n.671-1525_671-1508delinsACTAAATGTAAGAAAAAT...
ENST00000354071.7:c.2974_2991delinsACTAAATGTAAGAAAAAT ENSP00000326002.7:p.Thr992=
ENST00000357654.7:c.2974_2991delinsACTAAATGTAAGAAAAAT ENSP00000350283.3:p.Thr992=
ENST00000461221.5:c.*2757_*2774delinsACTAAATGTAAGAAAAAT ENSP00000418548.1:n.*2757_*2774delinsACTAAATGTAAGAAAAAT
ENST00000468300.5:c.788-1525_788-1508delinsACTAAATGTAAGAAAAAT ENSP00000417148.1:n.788-1525_788-1508delinsACTAAATGTAAGAAAAAT...
ENST00000471181.6:c.2974_2991delinsACTAAATGTAAGAAAAAT ENSP00000418960.2:p.Thr992=
ENST00000478531.5:c.785-1525_785-1508delinsACTAAATGTAAGAAAAAT ENSP00000420412.1:n.785-1525_785-1508delinsACTAAATGTAAGAAAAAT...
ENST00000484087.5:c.410-1525_410-1508delinsACTAAATGTAAGAAAAAT ENSP00000419481.1:n.410-1525_410-1508delinsACTAAATGTAAGAAAAAT...
ENST00000487825.5:c.413-1525_413-1508delinsACTAAATGTAAGAAAAAT ENSP00000418212.1:n.413-1525_413-1508delinsACTAAATGTAAGAAAAAT...
ENST00000491747.6:c.788-1525_788-1508delinsACTAAATGTAAGAAAAAT ENSP00000420705.2:n.788-1525_788-1508delinsACTAAATGTAAGAAAAAT...
ENST00000493795.5:c.2833_2850delinsACTAAATGTAAGAAAAAT ENSP00000418775.1:p.Thr945=
ENST00000493919.5:c.647-1525_647-1508delinsACTAAATGTAAGAAAAAT ENSP00000418819.1:n.647-1525_647-1508delinsACTAAATGTAAGAAAAAT...
ENST00000586385.5:c.5-28606_5-28589delinsACTAAATGTAAGAAAAAT ENSP00000465818.1:n.5-28606_5-28589delinsACTAAATGTAAGAAAAAT
ENST00000591534.5:c.-43-18036_-43-18019delinsACTAAATGTAAGAAAAAT ENSP00000467329.1:n.-43-18036_-43-18019delinsACTAAATGTAAGAAAA...
ENST00000591849.5:c.-99+32714_-99+32731delinsACTAAATGTAAGAAAAAT ENSP00000465347.1:n.-99+32714_-99+32731delinsACTAAATGTAAGAAAA...
NM_007294.3:c.2974_2991delinsACTAAATGTAAGAAAAAT , LRG_292t1:c.2974_2991delinsACTAAATGTAAGAAAAAT NP_009225.1:p.Thr992=
NM_007297.3:c.2833_2850delinsACTAAATGTAAGAAAAAT NP_009228.2:p.Thr945=
NM_007298.3:c.788-1525_788-1508delinsACTAAATGTAAGAAAAAT NP_009229.2:n.788-1525_788-1508delinsACTAAATGTAAGAAAAAT
NM_007299.3:c.788-1525_788-1508delinsACTAAATGTAAGAAAAAT NP_009230.2:n.788-1525_788-1508delinsACTAAATGTAAGAAAAAT
NM_007300.3:c.2974_2991delinsACTAAATGTAAGAAAAAT NP_009231.2:p.Thr992=
NR_027676.1:n.3110_3127delinsACTAAATGTAAGAAAAAT
NM_007294.4:c.2974_2991delinsACTAAATGTAAGAAAAAT MANE Select NP_009225.1:p.Thr992=
NM_007297.4:c.2833_2850delinsACTAAATGTAAGAAAAAT NP_009228.2:p.Thr945=
NM_007299.4:c.788-1525_788-1508delinsACTAAATGTAAGAAAAAT NP_009230.2:n.788-1525_788-1508delinsACTAAATGTAAGAAAAAT
NM_007300.4:c.2974_2991delinsACTAAATGTAAGAAAAAT NP_009231.2:p.Thr992=
NR_027676.2:n.3151_3168delinsACTAAATGTAAGAAAAAT