Canonical Allele Identifier: CA916084313
Community Standard Title: NM_007294.4(BRCA1):c.4676dup (p.Thr1561AsnfsTer13)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43071238dup , CM000679.2:g.43071238dup GRCh38
NC_000017.10:g.41223255dup , CM000679.1:g.41223255dup GRCh37
NC_000017.9:g.38476781dup NCBI36
NG_005905.2:g.146746dup , LRG_292:g.146746dup

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.4676dup MANE Select NP_009225.1:p.Thr1561AsnfsTer13
ENST00000357654.9:c.4676dup MANE Select ENSP00000350283.3:p.Thr1561AsnfsTer13
NM_007294.3:c.4676dup , LRG_292t1:c.4676dup NP_009225.1:p.Thr1561AsnfsTer13
NM_007297.3:c.4535dup NP_009228.2:p.Thr1514AsnfsTer13
NM_007297.4:c.4535dup NP_009228.2:p.Thr1514AsnfsTer13
NM_007298.3:c.1364dup NP_009229.2:p.Thr457AsnfsTer13
NM_007299.3:c.1364dup NP_009230.2:p.Thr457AsnfsTer13
NM_007299.4:c.1364dup NP_009230.2:p.Thr457AsnfsTer13
NM_007300.3:c.4739dup NP_009231.2:p.Thr1582AsnfsTer13
NM_007300.4:c.4739dup NP_009231.2:p.Thr1582AsnfsTer13
NR_027676.1:n.4812dup
NR_027676.2:n.4853dup
ENST00000352993.7:c.1250dup ENSP00000312236.5:p.Thr419AsnfsTer13
ENST00000357654.7:c.4676dup ENSP00000350283.3:p.Thr1561AsnfsTer13
ENST00000461221.5:c.*4459dup ENSP00000418548.1:n.*4459dup
ENST00000461574.2:c.4673dup ENSP00000417241.2:p.Thr1560AsnfsTer13
ENST00000468300.5:c.1364dup ENSP00000417148.1:p.Thr457AsnfsTer13
ENST00000470026.6:c.4676dup ENSP00000419274.2:p.Thr1561AsnfsTer13
ENST00000471181.6:c.4739dup ENSP00000418960.2:p.Thr1582AsnfsTer13
ENST00000471181.7:c.4739dup ENSP00000418960.2:p.Thr1582AsnfsTer13
ENST00000473961.6:c.4550dup ENSP00000420201.2:p.Thr1519AsnfsTer13
ENST00000476777.6:c.4670dup ENSP00000417554.2:p.Thr1559AsnfsTer13
ENST00000477152.6:c.4598dup ENSP00000419988.2:p.Thr1535AsnfsTer13
ENST00000478531.5:c.1364dup ENSP00000420412.1:p.Thr457AsnfsTer13
ENST00000478531.6:c.1364dup ENSP00000420412.2:p.Thr457AsnfsTer13
ENST00000484087.5:c.989dup ENSP00000419481.1:p.Thr332AsnfsTer13
ENST00000484087.6:c.1238dup ENSP00000419481.2:p.Thr415AsnfsTer13
ENST00000489037.2:c.4598dup ENSP00000420781.2:p.Thr1535AsnfsTer13
ENST00000491747.6:c.1364dup ENSP00000420705.2:p.Thr457AsnfsTer13
ENST00000493795.5:c.4535dup ENSP00000418775.1:p.Thr1514AsnfsTer13
ENST00000493919.5:c.1226dup ENSP00000418819.1:p.Thr411AsnfsTer13
ENST00000493919.6:c.1226dup ENSP00000418819.2:p.Thr411AsnfsTer13
ENST00000494123.6:c.4676dup ENSP00000419103.2:p.Thr1561AsnfsTer13
ENST00000497488.2:c.3788dup ENSP00000418986.2:p.Thr1265AsnfsTer13
ENST00000586385.5:c.5-7287dup ENSP00000465818.1:n.5-7287dup
ENST00000591534.5:c.149dup ENSP00000467329.1:p.Thr52AsnfsTer13
ENST00000591849.5:c.-98-21048dup ENSP00000465347.1:n.-98-21048dup
ENST00000618469.2:c.4676dup ENSP00000478114.2:p.Thr1561AsnfsTer13
ENST00000634433.2:c.4553dup ENSP00000489431.2:p.Thr1520AsnfsTer13
ENST00000644379.1:c.1063dup
ENST00000644379.2:c.4742dup ENSP00000496570.2:p.Thr1583AsnfsTer13
ENST00000644555.2:c.1226dup ENSP00000494614.2:p.Thr411AsnfsTer13
ENST00000652672.2:c.4535dup ENSP00000498906.2:p.Thr1514AsnfsTer13
ENST00000700182.1:c.1283dup ENSP00000514849.1:p.Thr430AsnfsTer13