Canonical Allele Identifier: CA2260774347
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43074170_43074172delinsGAT , CM000679.2:g.43074170_43074172delinsGAT GRCh38
NC_000017.10:g.41226187_41226189delinsGAT , CM000679.1:g.41226187_41226189delinsGAT GRCh37
NC_000017.9:g.38479713_38479715delinsGAT NCBI36
NG_005905.2:g.143812_143814delinsATC , LRG_292:g.143812_143814delinsATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4672+159_4672+161delinsATC ENSP00000417241.2:n.4672+159_4672+161delinsATC
ENST00000470026.6:c.4675+159_4675+161delinsATC ENSP00000419274.2:n.4675+159_4675+161delinsATC
ENST00000473961.6:c.4549+159_4549+161delinsATC ENSP00000420201.2:n.4549+159_4549+161delinsATC
ENST00000476777.6:c.4669+159_4669+161delinsATC ENSP00000417554.2:n.4669+159_4669+161delinsATC
ENST00000477152.6:c.4597+159_4597+161delinsATC ENSP00000419988.2:n.4597+159_4597+161delinsATC
ENST00000478531.6:c.1363+159_1363+161delinsATC ENSP00000420412.2:n.1363+159_1363+161delinsATC
ENST00000489037.2:c.4597+159_4597+161delinsATC ENSP00000420781.2:n.4597+159_4597+161delinsATC
ENST00000493919.6:c.1225+159_1225+161delinsATC ENSP00000418819.2:n.1225+159_1225+161delinsATC
ENST00000494123.6:c.4675+159_4675+161delinsATC ENSP00000419103.2:n.4675+159_4675+161delinsATC
ENST00000497488.2:c.3787+159_3787+161delinsATC ENSP00000418986.2:n.3787+159_3787+161delinsATC
ENST00000618469.2:c.4675+159_4675+161delinsATC ENSP00000478114.2:n.4675+159_4675+161delinsATC
ENST00000634433.2:c.4552+159_4552+161delinsATC ENSP00000489431.2:n.4552+159_4552+161delinsATC
ENST00000644379.2:c.4741+159_4741+161delinsATC ENSP00000496570.2:n.4741+159_4741+161delinsATC
ENST00000644555.2:c.1225+159_1225+161delinsATC ENSP00000494614.2:n.1225+159_1225+161delinsATC
ENST00000652672.2:c.4534+159_4534+161delinsATC ENSP00000498906.2:n.4534+159_4534+161delinsATC
ENST00000484087.6:c.1237+159_1237+161delinsATC ENSP00000419481.2:n.1237+159_1237+161delinsATC
ENST00000700182.1:c.1282+159_1282+161delinsATC ENSP00000514849.1:n.1282+159_1282+161delinsATC
ENST00000357654.9:c.4675+159_4675+161delinsATC MANE Select ENSP00000350283.3:n.4675+159_4675+161delinsATC
ENST00000471181.7:c.4738+159_4738+161delinsATC ENSP00000418960.2:n.4738+159_4738+161delinsATC
ENST00000644379.1:c.1062+159_1062+161delinsATC
ENST00000352993.7:c.1249+159_1249+161delinsATC ENSP00000312236.5:n.1249+159_1249+161delinsATC
ENST00000357654.7:c.4675+159_4675+161delinsATC ENSP00000350283.3:n.4675+159_4675+161delinsATC
ENST00000461221.5:c.*4458+159_*4458+161delinsATC ENSP00000418548.1:n.*4458+159_*4458+161delinsATC
ENST00000468300.5:c.1363+159_1363+161delinsATC ENSP00000417148.1:n.1363+159_1363+161delinsATC
ENST00000471181.6:c.4738+159_4738+161delinsATC ENSP00000418960.2:n.4738+159_4738+161delinsATC
ENST00000478531.5:c.1363+159_1363+161delinsATC ENSP00000420412.1:n.1363+159_1363+161delinsATC
ENST00000484087.5:c.988+159_988+161delinsATC ENSP00000419481.1:n.988+159_988+161delinsATC
ENST00000491747.6:c.1363+159_1363+161delinsATC ENSP00000420705.2:n.1363+159_1363+161delinsATC
ENST00000493795.5:c.4534+159_4534+161delinsATC ENSP00000418775.1:n.4534+159_4534+161delinsATC
ENST00000493919.5:c.1225+159_1225+161delinsATC ENSP00000418819.1:n.1225+159_1225+161delinsATC
ENST00000586385.5:c.5-10221_5-10219delinsATC ENSP00000465818.1:n.5-10221_5-10219delinsATC
ENST00000591534.5:c.148+159_148+161delinsATC ENSP00000467329.1:n.148+159_148+161delinsATC
ENST00000591849.5:c.-98-23982_-98-23980delinsATC ENSP00000465347.1:n.-98-23982_-98-23980delinsATC
NM_007294.3:c.4675+159_4675+161delinsATC , LRG_292t1:c.4675+159_4675+161delinsATC NP_009225.1:n.4675+159_4675+161delinsATC
NM_007297.3:c.4534+159_4534+161delinsATC NP_009228.2:n.4534+159_4534+161delinsATC
NM_007298.3:c.1363+159_1363+161delinsATC NP_009229.2:n.1363+159_1363+161delinsATC
NM_007299.3:c.1363+159_1363+161delinsATC NP_009230.2:n.1363+159_1363+161delinsATC
NM_007300.3:c.4738+159_4738+161delinsATC NP_009231.2:n.4738+159_4738+161delinsATC
NR_027676.1:n.4811+159_4811+161delinsATC
NM_007294.4:c.4675+159_4675+161delinsATC MANE Select NP_009225.1:n.4675+159_4675+161delinsATC
NM_007297.4:c.4534+159_4534+161delinsATC NP_009228.2:n.4534+159_4534+161delinsATC
NM_007299.4:c.1363+159_1363+161delinsATC NP_009230.2:n.1363+159_1363+161delinsATC
NM_007300.4:c.4738+159_4738+161delinsATC NP_009231.2:n.4738+159_4738+161delinsATC
NR_027676.2:n.4852+159_4852+161delinsATC