Canonical Allele Identifier: CA000906
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094174_43094175del , CM000679.2:g.43094174_43094175del GRCh38
NC_000017.10:g.41246191_41246192del , CM000679.1:g.41246191_41246192del GRCh37
NC_000017.9:g.38499717_38499718del NCBI36
NG_005905.2:g.123813_123814del , LRG_292:g.123813_123814del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.1424_1425del
ENST00000461574.2:c.1360_1361del ENSP00000417241.2:p.Ser454Ter
ENST00000470026.6:c.1360_1361del ENSP00000419274.2:p.Ser454Ter
ENST00000473961.6:c.1234_1235del ENSP00000420201.2:p.Ser412Ter
ENST00000476777.6:c.1357_1358del ENSP00000417554.2:p.Ser453Ter
ENST00000477152.6:c.1282_1283del ENSP00000419988.2:p.Ser428Ter
ENST00000478531.6:c.784+573_784+574del ENSP00000420412.2:n.784+573_784+574del
ENST00000489037.2:c.1282_1283del ENSP00000420781.2:p.Ser428Ter
ENST00000493919.6:c.646+573_646+574del ENSP00000418819.2:n.646+573_646+574del
ENST00000494123.6:c.1360_1361del ENSP00000419103.2:p.Ser454Ter
ENST00000497488.2:c.472_473del ENSP00000418986.2:p.Ser158Ter
ENST00000618469.2:c.1360_1361del ENSP00000478114.2:p.Ser454Ter
ENST00000634433.2:c.1237_1238del ENSP00000489431.2:p.Ser413Ter
ENST00000644379.2:c.1360_1361del ENSP00000496570.2:p.Ser454Ter
ENST00000644555.2:c.646+573_646+574del ENSP00000494614.2:n.646+573_646+574del
ENST00000652672.2:c.1219_1220del ENSP00000498906.2:p.Ser407Ter
ENST00000484087.6:c.664+573_664+574del ENSP00000419481.2:n.664+573_664+574del
ENST00000700182.1:c.706+573_706+574del ENSP00000514849.1:n.706+573_706+574del
ENST00000700183.1:c.*1368_*1369del ENSP00000514850.1:n.*1368_*1369del
ENST00000357654.9:c.1360_1361del MANE Select ENSP00000350283.3:p.Ser454Ter
ENST00000471181.7:c.1360_1361del ENSP00000418960.2:p.Ser454Ter
ENST00000652672.1:c.1219_1220del ENSP00000498906.1:p.Ser407Ter
ENST00000352993.7:c.670+1675_670+1676del ENSP00000312236.5:n.670+1675_670+1676del
ENST00000354071.7:c.1360_1361del ENSP00000326002.7:p.Ser454Ter
ENST00000357654.7:c.1360_1361del ENSP00000350283.3:p.Ser454Ter
ENST00000412061.3:c.711_712del
ENST00000461221.5:c.*1143_*1144del ENSP00000418548.1:n.*1143_*1144del
ENST00000468300.5:c.787+573_787+574del ENSP00000417148.1:n.787+573_787+574del
ENST00000470026.5:c.1360_1361del ENSP00000419274.1:p.Ser454Ter
ENST00000471181.6:c.1360_1361del ENSP00000418960.2:p.Ser454Ter
ENST00000473961.5:c.957_958del
ENST00000477152.5:c.1282_1283del ENSP00000419988.1:p.Ser428Ter
ENST00000478531.5:c.784+573_784+574del ENSP00000420412.1:n.784+573_784+574del
ENST00000484087.5:c.409+573_409+574del ENSP00000419481.1:n.409+573_409+574del
ENST00000487825.5:c.412+573_412+574del ENSP00000418212.1:n.412+573_412+574del
ENST00000491747.6:c.787+573_787+574del ENSP00000420705.2:n.787+573_787+574del
ENST00000492859.5:c.*1296_*1297del ENSP00000420253.1:n.*1296_*1297del
ENST00000493795.5:c.1219_1220del ENSP00000418775.1:p.Ser407Ter
ENST00000493919.5:c.646+573_646+574del ENSP00000418819.1:n.646+573_646+574del
ENST00000494123.5:c.1360_1361del ENSP00000419103.1:p.Ser454Ter
ENST00000497488.1:c.472_473del ENSP00000418986.1:p.Ser158Ter
ENST00000586385.5:c.5-30220_5-30219del ENSP00000465818.1:n.5-30220_5-30219del
ENST00000591534.5:c.-43-19650_-43-19649del ENSP00000467329.1:n.-43-19650_-43-19649del
ENST00000591849.5:c.-99+31100_-99+31101del ENSP00000465347.1:n.-99+31100_-99+31101del
ENST00000634433.1:c.1237_1238del ENSP00000489431.1:p.Ser413Ter
NM_007294.3:c.1360_1361del , LRG_292t1:c.1360_1361del NP_009225.1:p.Ser454Ter
NM_007297.3:c.1219_1220del NP_009228.2:p.Ser407Ter
NM_007298.3:c.787+573_787+574del NP_009229.2:n.787+573_787+574del
NM_007299.3:c.787+573_787+574del NP_009230.2:n.787+573_787+574del
NM_007300.3:c.1360_1361del NP_009231.2:p.Ser454Ter
NR_027676.1:n.1496_1497del
NM_007294.4:c.1360_1361del MANE Select NP_009225.1:p.Ser454Ter
NM_007297.4:c.1219_1220del NP_009228.2:p.Ser407Ter
NM_007299.4:c.787+573_787+574del NP_009230.2:n.787+573_787+574del
NM_007300.4:c.1360_1361del NP_009231.2:p.Ser454Ter
NR_027676.2:n.1537_1538del