Canonical Allele Identifier: CA2260771480
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43067832_43067833delinsGT , CM000679.2:g.43067832_43067833delinsGT GRCh38
NC_000017.10:g.41219849_41219850delinsGT , CM000679.1:g.41219849_41219850delinsGT GRCh37
NC_000017.9:g.38473375_38473376delinsGT NCBI36
NG_005905.2:g.150151_150152delinsAC , LRG_292:g.150151_150152delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4984-138_4984-137delinsAC ENSP00000417241.2:n.4984-138_4984-137delinsAC
ENST00000470026.6:c.4987-138_4987-137delinsAC ENSP00000419274.2:n.4987-138_4987-137delinsAC
ENST00000473961.6:c.4861-138_4861-137delinsAC ENSP00000420201.2:n.4861-138_4861-137delinsAC
ENST00000476777.6:c.4981-138_4981-137delinsAC ENSP00000417554.2:n.4981-138_4981-137delinsAC
ENST00000477152.6:c.4909-138_4909-137delinsAC ENSP00000419988.2:n.4909-138_4909-137delinsAC
ENST00000478531.6:c.1675-138_1675-137delinsAC ENSP00000420412.2:n.1675-138_1675-137delinsAC
ENST00000489037.2:c.4909-138_4909-137delinsAC ENSP00000420781.2:n.4909-138_4909-137delinsAC
ENST00000493919.6:c.1537-138_1537-137delinsAC ENSP00000418819.2:n.1537-138_1537-137delinsAC
ENST00000494123.6:c.4987-138_4987-137delinsAC ENSP00000419103.2:n.4987-138_4987-137delinsAC
ENST00000497488.2:c.4099-138_4099-137delinsAC ENSP00000418986.2:n.4099-138_4099-137delinsAC
ENST00000618469.2:c.4987-138_4987-137delinsAC ENSP00000478114.2:n.4987-138_4987-137delinsAC
ENST00000634433.2:c.4864-138_4864-137delinsAC ENSP00000489431.2:n.4864-138_4864-137delinsAC
ENST00000644379.2:c.5053-138_5053-137delinsAC ENSP00000496570.2:n.5053-138_5053-137delinsAC
ENST00000644555.2:c.1537-138_1537-137delinsAC ENSP00000494614.2:n.1537-138_1537-137delinsAC
ENST00000652672.2:c.4846-138_4846-137delinsAC ENSP00000498906.2:n.4846-138_4846-137delinsAC
ENST00000484087.6:c.1549-138_1549-137delinsAC ENSP00000419481.2:n.1549-138_1549-137delinsAC
ENST00000357654.9:c.4987-138_4987-137delinsAC MANE Select ENSP00000350283.3:n.4987-138_4987-137delinsAC
ENST00000471181.7:c.5050-138_5050-137delinsAC ENSP00000418960.2:n.5050-138_5050-137delinsAC
ENST00000644379.1:c.1374-138_1374-137delinsAC
ENST00000352993.7:c.1561-138_1561-137delinsAC ENSP00000312236.5:n.1561-138_1561-137delinsAC
ENST00000357654.7:c.4987-138_4987-137delinsAC ENSP00000350283.3:n.4987-138_4987-137delinsAC
ENST00000461221.5:c.*4770-138_*4770-137delinsAC ENSP00000418548.1:n.*4770-138_*4770-137delinsAC
ENST00000468300.5:c.1675-138_1675-137delinsAC ENSP00000417148.1:n.1675-138_1675-137delinsAC
ENST00000471181.6:c.5050-138_5050-137delinsAC ENSP00000418960.2:n.5050-138_5050-137delinsAC
ENST00000472490.1:n.140-138_140-137delinsAC
ENST00000478531.5:c.1675-138_1675-137delinsAC ENSP00000420412.1:n.1675-138_1675-137delinsAC
ENST00000484087.5:c.1300-138_1300-137delinsAC ENSP00000419481.1:n.1300-138_1300-137delinsAC
ENST00000491747.6:c.1675-138_1675-137delinsAC ENSP00000420705.2:n.1675-138_1675-137delinsAC
ENST00000493795.5:c.4846-138_4846-137delinsAC ENSP00000418775.1:n.4846-138_4846-137delinsAC
ENST00000493919.5:c.1537-138_1537-137delinsAC ENSP00000418819.1:n.1537-138_1537-137delinsAC
ENST00000586385.5:c.5-3882_5-3881delinsAC ENSP00000465818.1:n.5-3882_5-3881delinsAC
ENST00000591534.5:c.460-138_460-137delinsAC ENSP00000467329.1:n.460-138_460-137delinsAC
ENST00000591849.5:c.-98-17643_-98-17642delinsAC ENSP00000465347.1:n.-98-17643_-98-17642delinsAC
NM_007294.3:c.4987-138_4987-137delinsAC , LRG_292t1:c.4987-138_4987-137delinsAC NP_009225.1:n.4987-138_4987-137delinsAC
NM_007297.3:c.4846-138_4846-137delinsAC NP_009228.2:n.4846-138_4846-137delinsAC
NM_007298.3:c.1675-138_1675-137delinsAC NP_009229.2:n.1675-138_1675-137delinsAC
NM_007299.3:c.1675-138_1675-137delinsAC NP_009230.2:n.1675-138_1675-137delinsAC
NM_007300.3:c.5050-138_5050-137delinsAC NP_009231.2:n.5050-138_5050-137delinsAC
NR_027676.1:n.5123-138_5123-137delinsAC
NM_007294.4:c.4987-138_4987-137delinsAC MANE Select NP_009225.1:n.4987-138_4987-137delinsAC
NM_007297.4:c.4846-138_4846-137delinsAC NP_009228.2:n.4846-138_4846-137delinsAC
NM_007299.4:c.1675-138_1675-137delinsAC NP_009230.2:n.1675-138_1675-137delinsAC
NM_007300.4:c.5050-138_5050-137delinsAC NP_009231.2:n.5050-138_5050-137delinsAC
NR_027676.2:n.5164-138_5164-137delinsAC