Canonical Allele Identifier: CA002654
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43090995_43090996del , CM000679.2:g.43090995_43090996del GRCh38
NC_000017.10:g.41243012_41243013del , CM000679.1:g.41243012_41243013del GRCh37
NC_000017.9:g.38496538_38496539del NCBI36
NG_005905.2:g.126991_126992del , LRG_292:g.126991_126992del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4136_4137del ENSP00000417241.2:p.Ser1379Ter
ENST00000470026.6:c.4136_4137del ENSP00000419274.2:p.Ser1379Ter
ENST00000473961.6:c.4010_4011del ENSP00000420201.2:p.Ser1337Ter
ENST00000476777.6:c.4133_4134del ENSP00000417554.2:p.Ser1378Ter
ENST00000477152.6:c.4058_4059del ENSP00000419988.2:p.Ser1353Ter
ENST00000478531.6:c.824_825del ENSP00000420412.2:p.Ser275Ter
ENST00000489037.2:c.4058_4059del ENSP00000420781.2:p.Ser1353Ter
ENST00000493919.6:c.686_687del ENSP00000418819.2:p.Ser229Ter
ENST00000494123.6:c.4136_4137del ENSP00000419103.2:p.Ser1379Ter
ENST00000497488.2:c.3248_3249del ENSP00000418986.2:p.Ser1083Ter
ENST00000618469.2:c.4136_4137del ENSP00000478114.2:p.Ser1379Ter
ENST00000634433.2:c.4013_4014del ENSP00000489431.2:p.Ser1338Ter
ENST00000644379.2:c.4136_4137del ENSP00000496570.2:p.Ser1379Ter
ENST00000644555.2:c.686_687del ENSP00000494614.2:p.Ser229Ter
ENST00000652672.2:c.3995_3996del ENSP00000498906.2:p.Ser1332Ter
ENST00000484087.6:c.704_705del ENSP00000419481.2:p.Ser235Ter
ENST00000700182.1:c.746_747del ENSP00000514849.1:p.Ser249Ter
ENST00000357654.9:c.4136_4137del MANE Select ENSP00000350283.3:p.Ser1379Ter
ENST00000471181.7:c.4136_4137del ENSP00000418960.2:p.Ser1379Ter
ENST00000644379.1:c.457_458del
ENST00000352993.7:c.710_711del ENSP00000312236.5:p.Ser237Ter
ENST00000357654.7:c.4136_4137del ENSP00000350283.3:p.Ser1379Ter
ENST00000461221.5:c.*3919_*3920del ENSP00000418548.1:n.*3919_*3920del
ENST00000461574.1:c.430_431del
ENST00000468300.5:c.827_828del ENSP00000417148.1:p.Ser276Ter
ENST00000471181.6:c.4136_4137del ENSP00000418960.2:p.Ser1379Ter
ENST00000478531.5:c.824_825del ENSP00000420412.1:p.Ser275Ter
ENST00000484087.5:c.449_450del ENSP00000419481.1:p.Ser150Ter
ENST00000487825.5:c.452_453del ENSP00000418212.1:p.Ser151Ter
ENST00000491747.6:c.827_828del ENSP00000420705.2:p.Ser276Ter
ENST00000493795.5:c.3995_3996del ENSP00000418775.1:p.Ser1332Ter
ENST00000493919.5:c.686_687del ENSP00000418819.1:p.Ser229Ter
ENST00000586385.5:c.5-27042_5-27041del ENSP00000465818.1:n.5-27042_5-27041del
ENST00000591534.5:c.-43-16472_-43-16471del ENSP00000467329.1:n.-43-16472_-43-16471del
ENST00000591849.5:c.-99+34278_-99+34279del ENSP00000465347.1:n.-99+34278_-99+34279del
NM_007294.3:c.4136_4137del , LRG_292t1:c.4136_4137del NP_009225.1:p.Ser1379Ter
NM_007297.3:c.3995_3996del NP_009228.2:p.Ser1332Ter
NM_007298.3:c.827_828del NP_009229.2:p.Ser276Ter
NM_007299.3:c.827_828del NP_009230.2:p.Ser276Ter
NM_007300.3:c.4136_4137del NP_009231.2:p.Ser1379Ter
NR_027676.1:n.4272_4273del
NM_007294.4:c.4136_4137del MANE Select NP_009225.1:p.Ser1379Ter
NM_007297.4:c.3995_3996del NP_009228.2:p.Ser1332Ter
NM_007299.4:c.827_828del NP_009230.2:p.Ser276Ter
NM_007300.4:c.4136_4137del NP_009231.2:p.Ser1379Ter
NR_027676.2:n.4313_4314del