Canonical Allele Identifier: CA2260772776
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43070965_43070968delinsATTC , CM000679.2:g.43070965_43070968delinsATTC GRCh38
NC_000017.10:g.41222982_41222985delinsATTC , CM000679.1:g.41222982_41222985delinsATTC GRCh37
NC_000017.9:g.38476508_38476511delinsATTC NCBI36
NG_005905.2:g.147016_147019delinsGAAT , LRG_292:g.147016_147019delinsGAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4943_4946delinsGAAT ENSP00000417241.2:p.Arg1648=
ENST00000470026.6:c.4946_4949delinsGAAT ENSP00000419274.2:p.Arg1649=
ENST00000473961.6:c.4820_4823delinsGAAT ENSP00000420201.2:p.Arg1607=
ENST00000476777.6:c.4940_4943delinsGAAT ENSP00000417554.2:p.Arg1647=
ENST00000477152.6:c.4868_4871delinsGAAT ENSP00000419988.2:p.Arg1623=
ENST00000478531.6:c.1634_1637delinsGAAT ENSP00000420412.2:p.Arg545=
ENST00000489037.2:c.4868_4871delinsGAAT ENSP00000420781.2:p.Arg1623=
ENST00000493919.6:c.1496_1499delinsGAAT ENSP00000418819.2:p.Arg499=
ENST00000494123.6:c.4946_4949delinsGAAT ENSP00000419103.2:p.Arg1649=
ENST00000497488.2:c.4058_4061delinsGAAT ENSP00000418986.2:p.Arg1353=
ENST00000618469.2:c.4946_4949delinsGAAT ENSP00000478114.2:p.Arg1649=
ENST00000634433.2:c.4823_4826delinsGAAT ENSP00000489431.2:p.Arg1608=
ENST00000644379.2:c.5012_5015delinsGAAT ENSP00000496570.2:p.Arg1671=
ENST00000644555.2:c.1496_1499delinsGAAT ENSP00000494614.2:p.Arg499=
ENST00000652672.2:c.4805_4808delinsGAAT ENSP00000498906.2:p.Arg1602=
ENST00000484087.6:c.1508_1511delinsGAAT ENSP00000419481.2:p.Arg503=
ENST00000700182.1:c.1553_1556delinsGAAT ENSP00000514849.1:p.Arg518=
ENST00000357654.9:c.4946_4949delinsGAAT MANE Select ENSP00000350283.3:p.Arg1649=
ENST00000471181.7:c.5009_5012delinsGAAT ENSP00000418960.2:p.Arg1670=
ENST00000644379.1:c.1333_1336delinsGAAT
ENST00000352993.7:c.1520_1523delinsGAAT ENSP00000312236.5:p.Arg507=
ENST00000357654.7:c.4946_4949delinsGAAT ENSP00000350283.3:p.Arg1649=
ENST00000461221.5:c.*4729_*4732delinsGAAT ENSP00000418548.1:n.*4729_*4732delinsGAAT
ENST00000468300.5:c.1634_1637delinsGAAT ENSP00000417148.1:p.Arg545=
ENST00000471181.6:c.5009_5012delinsGAAT ENSP00000418960.2:p.Arg1670=
ENST00000472490.1:n.99_102delinsGAAT
ENST00000478531.5:c.1634_1637delinsGAAT ENSP00000420412.1:p.Arg545=
ENST00000484087.5:c.1259_1262delinsGAAT ENSP00000419481.1:p.Arg420=
ENST00000491747.6:c.1634_1637delinsGAAT ENSP00000420705.2:p.Arg545=
ENST00000493795.5:c.4805_4808delinsGAAT ENSP00000418775.1:p.Arg1602=
ENST00000493919.5:c.1496_1499delinsGAAT ENSP00000418819.1:p.Arg499=
ENST00000586385.5:c.5-7017_5-7014delinsGAAT ENSP00000465818.1:n.5-7017_5-7014delinsGAAT
ENST00000591534.5:c.419_422delinsGAAT ENSP00000467329.1:p.Arg140=
ENST00000591849.5:c.-98-20778_-98-20775delinsGAAT ENSP00000465347.1:n.-98-20778_-98-20775delinsGAAT
NM_007294.3:c.4946_4949delinsGAAT , LRG_292t1:c.4946_4949delinsGAAT NP_009225.1:p.Arg1649=
NM_007297.3:c.4805_4808delinsGAAT NP_009228.2:p.Arg1602=
NM_007298.3:c.1634_1637delinsGAAT NP_009229.2:p.Arg545=
NM_007299.3:c.1634_1637delinsGAAT NP_009230.2:p.Arg545=
NM_007300.3:c.5009_5012delinsGAAT NP_009231.2:p.Arg1670=
NR_027676.1:n.5082_5085delinsGAAT
NM_007294.4:c.4946_4949delinsGAAT MANE Select NP_009225.1:p.Arg1649=
NM_007297.4:c.4805_4808delinsGAAT NP_009228.2:p.Arg1602=
NM_007299.4:c.1634_1637delinsGAAT NP_009230.2:p.Arg545=
NM_007300.4:c.5009_5012delinsGAAT NP_009231.2:p.Arg1670=
NR_027676.2:n.5123_5126delinsGAAT