Canonical Allele Identifier: CA2260770857
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43066807_43066808delinsCA , CM000679.2:g.43066807_43066808delinsCA GRCh38
NC_000017.10:g.41218824_41218825delinsCA , CM000679.1:g.41218824_41218825delinsCA GRCh37
NC_000017.9:g.38472350_38472351delinsCA NCBI36
NG_005905.2:g.151176_151177delinsTG , LRG_292:g.151176_151177delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5071+800_5071+801delinsTG ENSP00000417241.2:n.5071+800_5071+801delinsTG
ENST00000470026.6:c.5074+800_5074+801delinsTG ENSP00000419274.2:n.5074+800_5074+801delinsTG
ENST00000473961.6:c.4948+800_4948+801delinsTG ENSP00000420201.2:n.4948+800_4948+801delinsTG
ENST00000476777.6:c.5068+800_5068+801delinsTG ENSP00000417554.2:n.5068+800_5068+801delinsTG
ENST00000477152.6:c.4996+800_4996+801delinsTG ENSP00000419988.2:n.4996+800_4996+801delinsTG
ENST00000478531.6:c.1762+800_1762+801delinsTG ENSP00000420412.2:n.1762+800_1762+801delinsTG
ENST00000489037.2:c.4996+800_4996+801delinsTG ENSP00000420781.2:n.4996+800_4996+801delinsTG
ENST00000493919.6:c.1624+800_1624+801delinsTG ENSP00000418819.2:n.1624+800_1624+801delinsTG
ENST00000494123.6:c.5074+800_5074+801delinsTG ENSP00000419103.2:n.5074+800_5074+801delinsTG
ENST00000497488.2:c.4186+800_4186+801delinsTG ENSP00000418986.2:n.4186+800_4186+801delinsTG
ENST00000618469.2:c.5074+800_5074+801delinsTG ENSP00000478114.2:n.5074+800_5074+801delinsTG
ENST00000634433.2:c.4951+800_4951+801delinsTG ENSP00000489431.2:n.4951+800_4951+801delinsTG
ENST00000644379.2:c.5140+800_5140+801delinsTG ENSP00000496570.2:n.5140+800_5140+801delinsTG
ENST00000644555.2:c.1624+800_1624+801delinsTG ENSP00000494614.2:n.1624+800_1624+801delinsTG
ENST00000652672.2:c.4933+800_4933+801delinsTG ENSP00000498906.2:n.4933+800_4933+801delinsTG
ENST00000484087.6:c.1636+800_1636+801delinsTG ENSP00000419481.2:n.1636+800_1636+801delinsTG
ENST00000357654.9:c.5074+800_5074+801delinsTG MANE Select ENSP00000350283.3:n.5074+800_5074+801delinsTG
ENST00000471181.7:c.5137+800_5137+801delinsTG ENSP00000418960.2:n.5137+800_5137+801delinsTG
ENST00000644379.1:c.1461+800_1461+801delinsTG
ENST00000352993.7:c.1648+800_1648+801delinsTG ENSP00000312236.5:n.1648+800_1648+801delinsTG
ENST00000357654.7:c.5074+800_5074+801delinsTG ENSP00000350283.3:n.5074+800_5074+801delinsTG
ENST00000461221.5:c.*4857+800_*4857+801delinsTG ENSP00000418548.1:n.*4857+800_*4857+801delinsTG
ENST00000468300.5:c.1762+800_1762+801delinsTG ENSP00000417148.1:n.1762+800_1762+801delinsTG
ENST00000471181.6:c.5137+800_5137+801delinsTG ENSP00000418960.2:n.5137+800_5137+801delinsTG
ENST00000478531.5:c.1762+800_1762+801delinsTG ENSP00000420412.1:n.1762+800_1762+801delinsTG
ENST00000484087.5:c.1387+800_1387+801delinsTG ENSP00000419481.1:n.1387+800_1387+801delinsTG
ENST00000491747.6:c.1762+800_1762+801delinsTG ENSP00000420705.2:n.1762+800_1762+801delinsTG
ENST00000493795.5:c.4933+800_4933+801delinsTG ENSP00000418775.1:n.4933+800_4933+801delinsTG
ENST00000493919.5:c.1624+800_1624+801delinsTG ENSP00000418819.1:n.1624+800_1624+801delinsTG
ENST00000586385.5:c.5-2857_5-2856delinsTG ENSP00000465818.1:n.5-2857_5-2856delinsTG
ENST00000591534.5:c.547+800_547+801delinsTG ENSP00000467329.1:n.547+800_547+801delinsTG
ENST00000591849.5:c.-98-16618_-98-16617delinsTG ENSP00000465347.1:n.-98-16618_-98-16617delinsTG
NM_007294.3:c.5074+800_5074+801delinsTG , LRG_292t1:c.5074+800_5074+801delinsTG NP_009225.1:n.5074+800_5074+801delinsTG
NM_007297.3:c.4933+800_4933+801delinsTG NP_009228.2:n.4933+800_4933+801delinsTG
NM_007298.3:c.1762+800_1762+801delinsTG NP_009229.2:n.1762+800_1762+801delinsTG
NM_007299.3:c.1762+800_1762+801delinsTG NP_009230.2:n.1762+800_1762+801delinsTG
NM_007300.3:c.5137+800_5137+801delinsTG NP_009231.2:n.5137+800_5137+801delinsTG
NR_027676.1:n.5210+800_5210+801delinsTG
NM_007294.4:c.5074+800_5074+801delinsTG MANE Select NP_009225.1:n.5074+800_5074+801delinsTG
NM_007297.4:c.4933+800_4933+801delinsTG NP_009228.2:n.4933+800_4933+801delinsTG
NM_007299.4:c.1762+800_1762+801delinsTG NP_009230.2:n.1762+800_1762+801delinsTG
NM_007300.4:c.5137+800_5137+801delinsTG NP_009231.2:n.5137+800_5137+801delinsTG
NR_027676.2:n.5251+800_5251+801delinsTG