Canonical Allele Identifier: CA2809539565
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43067866_43067867insGAT , CM000679.2:g.43067866_43067867insGAT GRCh38
NC_000017.10:g.41219883_41219884insGAT , CM000679.1:g.41219883_41219884insGAT GRCh37
NC_000017.9:g.38473409_38473410insGAT NCBI36
NG_005905.2:g.150118_150119insTCA , LRG_292:g.150118_150119insTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4984-171_4984-170insTCA ENSP00000417241.2:n.4984-171_4984-170insTCA
ENST00000470026.6:c.4987-171_4987-170insTCA ENSP00000419274.2:n.4987-171_4987-170insTCA
ENST00000473961.6:c.4861-171_4861-170insTCA ENSP00000420201.2:n.4861-171_4861-170insTCA
ENST00000476777.6:c.4981-171_4981-170insTCA ENSP00000417554.2:n.4981-171_4981-170insTCA
ENST00000477152.6:c.4909-171_4909-170insTCA ENSP00000419988.2:n.4909-171_4909-170insTCA
ENST00000478531.6:c.1675-171_1675-170insTCA ENSP00000420412.2:n.1675-171_1675-170insTCA
ENST00000489037.2:c.4909-171_4909-170insTCA ENSP00000420781.2:n.4909-171_4909-170insTCA
ENST00000493919.6:c.1537-171_1537-170insTCA ENSP00000418819.2:n.1537-171_1537-170insTCA
ENST00000494123.6:c.4987-171_4987-170insTCA ENSP00000419103.2:n.4987-171_4987-170insTCA
ENST00000497488.2:c.4099-171_4099-170insTCA ENSP00000418986.2:n.4099-171_4099-170insTCA
ENST00000618469.2:c.4987-171_4987-170insTCA ENSP00000478114.2:n.4987-171_4987-170insTCA
ENST00000634433.2:c.4864-171_4864-170insTCA ENSP00000489431.2:n.4864-171_4864-170insTCA
ENST00000644379.2:c.5053-171_5053-170insTCA ENSP00000496570.2:n.5053-171_5053-170insTCA
ENST00000644555.2:c.1537-171_1537-170insTCA ENSP00000494614.2:n.1537-171_1537-170insTCA
ENST00000652672.2:c.4846-171_4846-170insTCA ENSP00000498906.2:n.4846-171_4846-170insTCA
ENST00000484087.6:c.1549-171_1549-170insTCA ENSP00000419481.2:n.1549-171_1549-170insTCA
ENST00000357654.9:c.4987-171_4987-170insTCA MANE Select ENSP00000350283.3:n.4987-171_4987-170insTCA
ENST00000471181.7:c.5050-171_5050-170insTCA ENSP00000418960.2:n.5050-171_5050-170insTCA
ENST00000644379.1:c.1374-171_1374-170insTCA
ENST00000352993.7:c.1561-171_1561-170insTCA ENSP00000312236.5:n.1561-171_1561-170insTCA
ENST00000357654.7:c.4987-171_4987-170insTCA ENSP00000350283.3:n.4987-171_4987-170insTCA
ENST00000461221.5:c.*4770-171_*4770-170insTCA ENSP00000418548.1:n.*4770-171_*4770-170insTCA
ENST00000468300.5:c.1675-171_1675-170insTCA ENSP00000417148.1:n.1675-171_1675-170insTCA
ENST00000471181.6:c.5050-171_5050-170insTCA ENSP00000418960.2:n.5050-171_5050-170insTCA
ENST00000472490.1:n.140-171_140-170insTCA
ENST00000478531.5:c.1675-171_1675-170insTCA ENSP00000420412.1:n.1675-171_1675-170insTCA
ENST00000484087.5:c.1300-171_1300-170insTCA ENSP00000419481.1:n.1300-171_1300-170insTCA
ENST00000491747.6:c.1675-171_1675-170insTCA ENSP00000420705.2:n.1675-171_1675-170insTCA
ENST00000493795.5:c.4846-171_4846-170insTCA ENSP00000418775.1:n.4846-171_4846-170insTCA
ENST00000493919.5:c.1537-171_1537-170insTCA ENSP00000418819.1:n.1537-171_1537-170insTCA
ENST00000586385.5:c.5-3915_5-3914insTCA ENSP00000465818.1:n.5-3915_5-3914insTCA
ENST00000591534.5:c.460-171_460-170insTCA ENSP00000467329.1:n.460-171_460-170insTCA
ENST00000591849.5:c.-98-17676_-98-17675insTCA ENSP00000465347.1:n.-98-17676_-98-17675insTCA
NM_007294.3:c.4987-171_4987-170insTCA , LRG_292t1:c.4987-171_4987-170insTCA NP_009225.1:n.4987-171_4987-170insTCA
NM_007297.3:c.4846-171_4846-170insTCA NP_009228.2:n.4846-171_4846-170insTCA
NM_007298.3:c.1675-171_1675-170insTCA NP_009229.2:n.1675-171_1675-170insTCA
NM_007299.3:c.1675-171_1675-170insTCA NP_009230.2:n.1675-171_1675-170insTCA
NM_007300.3:c.5050-171_5050-170insTCA NP_009231.2:n.5050-171_5050-170insTCA
NR_027676.1:n.5123-171_5123-170insTCA
NM_007294.4:c.4987-171_4987-170insTCA MANE Select NP_009225.1:n.4987-171_4987-170insTCA
NM_007297.4:c.4846-171_4846-170insTCA NP_009228.2:n.4846-171_4846-170insTCA
NM_007299.4:c.1675-171_1675-170insTCA NP_009230.2:n.1675-171_1675-170insTCA
NM_007300.4:c.5050-171_5050-170insTCA NP_009231.2:n.5050-171_5050-170insTCA
NR_027676.2:n.5164-171_5164-170insTCA