Canonical Allele Identifier: CA2580612634

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067622_43067624dup , CM000679.2:g.43067622_43067624dup	GRCh38
NC_000017.10:g.41219639_41219641dup , CM000679.1:g.41219639_41219641dup	GRCh37
NC_000017.9:g.38473165_38473167dup	NCBI36
NG_005905.2:g.150364_150366dup , LRG_292:g.150364_150366dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5059_5061dup	ENSP00000417241.2:p.Val1687_Met1688insVal
ENST00000470026.6:c.5062_5064dup	ENSP00000419274.2:p.Val1688_Met1689insVal
ENST00000473961.6:c.4936_4938dup	ENSP00000420201.2:p.Val1646_Met1647insVal
ENST00000476777.6:c.5056_5058dup	ENSP00000417554.2:p.Val1686_Met1687insVal
ENST00000477152.6:c.4984_4986dup	ENSP00000419988.2:p.Val1662_Met1663insVal
ENST00000478531.6:c.1750_1752dup	ENSP00000420412.2:p.Val584_Met585insVal
ENST00000489037.2:c.4984_4986dup	ENSP00000420781.2:p.Val1662_Met1663insVal
ENST00000493919.6:c.1612_1614dup	ENSP00000418819.2:p.Val538_Met539insVal
ENST00000494123.6:c.5062_5064dup	ENSP00000419103.2:p.Val1688_Met1689insVal
ENST00000497488.2:c.4174_4176dup	ENSP00000418986.2:p.Val1392_Met1393insVal
ENST00000618469.2:c.5062_5064dup	ENSP00000478114.2:p.Val1688_Met1689insVal
ENST00000634433.2:c.4939_4941dup	ENSP00000489431.2:p.Val1647_Met1648insVal
ENST00000644379.2:c.5128_5130dup	ENSP00000496570.2:p.Val1710_Met1711insVal
ENST00000644555.2:c.1612_1614dup	ENSP00000494614.2:p.Val538_Met539insVal
ENST00000652672.2:c.4921_4923dup	ENSP00000498906.2:p.Val1641_Met1642insVal
ENST00000484087.6:c.1624_1626dup	ENSP00000419481.2:p.Val542_Met543insVal
ENST00000357654.9:c.5062_5064dup MANE Select	ENSP00000350283.3:p.Val1688_Met1689insVal
ENST00000471181.7:c.5125_5127dup	ENSP00000418960.2:p.Val1709_Met1710insVal
ENST00000644379.1:c.1449_1451dup
ENST00000352993.7:c.1636_1638dup	ENSP00000312236.5:p.Val546_Met547insVal
ENST00000357654.7:c.5062_5064dup	ENSP00000350283.3:p.Val1688_Met1689insVal
ENST00000461221.5:c.*4845_*4847dup	ENSP00000418548.1:n.*4845_*4847dup
ENST00000468300.5:c.1750_1752dup	ENSP00000417148.1:p.Val584_Met585insVal
ENST00000471181.6:c.5125_5127dup	ENSP00000418960.2:p.Val1709_Met1710insVal
ENST00000472490.1:n.215_217dup
ENST00000478531.5:c.1750_1752dup	ENSP00000420412.1:p.Val584_Met585insVal
ENST00000484087.5:c.1375_1377dup	ENSP00000419481.1:p.Val459_Met460insVal
ENST00000491747.6:c.1750_1752dup	ENSP00000420705.2:p.Val584_Met585insVal
ENST00000493795.5:c.4921_4923dup	ENSP00000418775.1:p.Val1641_Met1642insVal
ENST00000493919.5:c.1612_1614dup	ENSP00000418819.1:p.Val538_Met539insVal
ENST00000586385.5:c.5-3669_5-3667dup	ENSP00000465818.1:n.5-3669_5-3667dup
ENST00000591534.5:c.535_537dup	ENSP00000467329.1:p.Val179_Met180insVal
ENST00000591849.5:c.-98-17430_-98-17428dup	ENSP00000465347.1:n.-98-17430_-98-17428dup
NM_007294.3:c.5062_5064dup , LRG_292t1:c.5062_5064dup	NP_009225.1:p.Val1688_Met1689insVal
NM_007297.3:c.4921_4923dup	NP_009228.2:p.Val1641_Met1642insVal
NM_007298.3:c.1750_1752dup	NP_009229.2:p.Val584_Met585insVal
NM_007299.3:c.1750_1752dup	NP_009230.2:p.Val584_Met585insVal
NM_007300.3:c.5125_5127dup	NP_009231.2:p.Val1709_Met1710insVal
NR_027676.1:n.5198_5200dup
NM_007294.4:c.5062_5064dup MANE Select	NP_009225.1:p.Val1688_Met1689insVal
NM_007297.4:c.4921_4923dup	NP_009228.2:p.Val1641_Met1642insVal
NM_007299.4:c.1750_1752dup	NP_009230.2:p.Val584_Met585insVal
NM_007300.4:c.5125_5127dup	NP_009231.2:p.Val1709_Met1710insVal
NR_027676.2:n.5239_5241dup