Canonical Allele Identifier: CA2260785000
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094515_43094579delinsTTTTTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATG , CM000679.2:g.43094515_43094579delinsTTTTTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATG GRCh38
NC_000017.10:g.41246532_41246596delinsTTTTTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATG , CM000679.1:g.41246532_41246596delinsTTTTTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATG GRCh37
NC_000017.9:g.38500058_38500122delinsTTTTTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATG NCBI36
NG_005905.2:g.123405_123469delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA , LRG_292:g.123405_123469delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1016_1080delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA
ENST00000461574.2:c.952_1016delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000417241.2:p.His318=
ENST00000470026.6:c.952_1016delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000419274.2:p.His318=
ENST00000473961.6:c.826_890delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000420201.2:p.His276=
ENST00000476777.6:c.949_1013delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000417554.2:p.His317=
ENST00000477152.6:c.874_938delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000419988.2:p.His292=
ENST00000478531.6:c.784+165_784+229delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000420412.2:n.784+165_784+229delins...
ENST00000489037.2:c.874_938delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000420781.2:p.His292=
ENST00000493919.6:c.646+165_646+229delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000418819.2:n.646+165_646+229delins...
ENST00000494123.6:c.952_1016delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000419103.2:p.His318=
ENST00000497488.2:c.64_128delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000418986.2:p.His22=
ENST00000618469.2:c.952_1016delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000478114.2:p.His318=
ENST00000634433.2:c.829_893delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000489431.2:p.His277=
ENST00000644379.2:c.952_1016delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000496570.2:p.His318=
ENST00000644555.2:c.646+165_646+229delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000494614.2:n.646+165_646+229delins...
ENST00000652672.2:c.811_875delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000498906.2:p.His271=
ENST00000484087.6:c.664+165_664+229delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000419481.2:n.664+165_664+229delins...
ENST00000700182.1:c.706+165_706+229delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000514849.1:n.706+165_706+229delins...
ENST00000700183.1:c.*960_*1024delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000514850.1:n.*960_*1024delinsCATAA...
ENST00000357654.9:c.952_1016delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA MANE Select ENSP00000350283.3:p.His318=
ENST00000471181.7:c.952_1016delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000418960.2:p.His318=
ENST00000642945.1:c.*826_*890delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000495897.1:n.*826_*890delinsCATAAC...
ENST00000652672.1:c.811_875delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000498906.1:p.His271=
ENST00000352993.7:c.670+1267_670+1331delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000312236.5:n.670+1267_670+1331deli...
ENST00000354071.7:c.952_1016delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000326002.7:p.His318=
ENST00000357654.7:c.952_1016delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000350283.3:p.His318=
ENST00000412061.3:c.303_367delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA
ENST00000461221.5:c.*735_*799delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000418548.1:n.*735_*799delinsCATAAC...
ENST00000468300.5:c.787+165_787+229delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000417148.1:n.787+165_787+229delins...
ENST00000470026.5:c.952_1016delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000419274.1:p.His318=
ENST00000471181.6:c.952_1016delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000418960.2:p.His318=
ENST00000473961.5:c.549_613delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA
ENST00000477152.5:c.874_938delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000419988.1:p.His292=
ENST00000478531.5:c.784+165_784+229delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000420412.1:n.784+165_784+229delins...
ENST00000484087.5:c.409+165_409+229delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000419481.1:n.409+165_409+229delins...
ENST00000487825.5:c.412+165_412+229delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000418212.1:n.412+165_412+229delins...
ENST00000491747.6:c.787+165_787+229delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000420705.2:n.787+165_787+229delins...
ENST00000492859.5:c.*888_*952delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000420253.1:n.*888_*952delinsCATAAC...
ENST00000493795.5:c.811_875delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000418775.1:p.His271=
ENST00000493919.5:c.646+165_646+229delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000418819.1:n.646+165_646+229delins...
ENST00000494123.5:c.952_1016delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000419103.1:p.His318=
ENST00000497488.1:c.64_128delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000418986.1:p.His22=
ENST00000586385.5:c.4+30603_5-30564delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000465818.1:n.4+30603_5-30564delins...
ENST00000591534.5:c.-43-20058_-43-19994delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000467329.1:n.-43-20058_-43-19994de...
ENST00000591849.5:c.-99+30692_-99+30756delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000465347.1:n.-99+30692_-99+30756de...
ENST00000634433.1:c.829_893delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA ENSP00000489431.1:p.His277=
NM_007294.3:c.952_1016delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA , LRG_292t1:c.952_1016delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA NP_009225.1:p.His318=
NM_007297.3:c.811_875delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA NP_009228.2:p.His271=
NM_007298.3:c.787+165_787+229delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA NP_009229.2:n.787+165_787+229delinsCATAAC...
NM_007299.3:c.787+165_787+229delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA NP_009230.2:n.787+165_787+229delinsCATAAC...
NM_007300.3:c.952_1016delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA NP_009231.2:p.His318=
NR_027676.1:n.1088_1152delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA
NM_007294.4:c.952_1016delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA MANE Select NP_009225.1:p.His318=
NM_007297.4:c.811_875delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA NP_009228.2:p.His271=
NM_007299.4:c.787+165_787+229delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA NP_009230.2:n.787+165_787+229delinsCATAAC...
NM_007300.4:c.952_1016delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA NP_009231.2:p.His318=
NR_027676.2:n.1129_1193delinsCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAA