Canonical Allele Identifier: CA2580612621

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2573305
• ClinVar RCV Id: RCV003316994

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082532del , CM000679.2:g.43082532del	GRCh38
NC_000017.10:g.41234549del , CM000679.1:g.41234549del	GRCh37
NC_000017.9:g.38488075del	NCBI36
NG_005905.2:g.135454del , LRG_292:g.135454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4231del	ENSP00000417241.2:p.Met1411TrpfsTer4
ENST00000470026.6:c.4231del	ENSP00000419274.2:p.Met1411TrpfsTer4
ENST00000473961.6:c.4105del	ENSP00000420201.2:p.Met1369TrpfsTer4
ENST00000476777.6:c.4225del	ENSP00000417554.2:p.Met1409TrpfsTer4
ENST00000477152.6:c.4153del	ENSP00000419988.2:p.Met1385TrpfsTer4
ENST00000478531.6:c.919del	ENSP00000420412.2:p.Met307TrpfsTer4
ENST00000489037.2:c.4153del	ENSP00000420781.2:p.Met1385TrpfsTer4
ENST00000493919.6:c.781del	ENSP00000418819.2:p.Met261TrpfsTer4
ENST00000494123.6:c.4231del	ENSP00000419103.2:p.Met1411TrpfsTer4
ENST00000497488.2:c.3343del	ENSP00000418986.2:p.Met1115TrpfsTer4
ENST00000618469.2:c.4231del	ENSP00000478114.2:p.Met1411TrpfsTer4
ENST00000634433.2:c.4108del	ENSP00000489431.2:p.Met1370TrpfsTer4
ENST00000644379.2:c.4231del	ENSP00000496570.2:p.Met1411TrpfsTer4
ENST00000644555.2:c.781del	ENSP00000494614.2:p.Met261TrpfsTer4
ENST00000652672.2:c.4090del	ENSP00000498906.2:p.Met1364TrpfsTer4
ENST00000484087.6:c.796del	ENSP00000419481.2:p.Met266TrpfsTer4
ENST00000700182.1:c.841del	ENSP00000514849.1:p.Met281TrpfsTer4
ENST00000357654.9:c.4231del MANE Select	ENSP00000350283.3:p.Met1411TrpfsTer4
ENST00000471181.7:c.4231del	ENSP00000418960.2:p.Met1411TrpfsTer4
ENST00000644379.1:c.552del
ENST00000352993.7:c.805del	ENSP00000312236.5:p.Met269TrpfsTer4
ENST00000357654.7:c.4231del	ENSP00000350283.3:p.Met1411TrpfsTer4
ENST00000461221.5:c.*4014del	ENSP00000418548.1:n.*4014del
ENST00000461574.1:c.525del
ENST00000468300.5:c.922del	ENSP00000417148.1:p.Met308TrpfsTer4
ENST00000471181.6:c.4231del	ENSP00000418960.2:p.Met1411TrpfsTer4
ENST00000478531.5:c.919del	ENSP00000420412.1:p.Met307TrpfsTer4
ENST00000484087.5:c.544del	ENSP00000419481.1:p.Met182TrpfsTer4
ENST00000487825.5:c.547del	ENSP00000418212.1:p.Met183TrpfsTer4
ENST00000491747.6:c.922del	ENSP00000420705.2:p.Met308TrpfsTer4
ENST00000493795.5:c.4090del	ENSP00000418775.1:p.Met1364TrpfsTer4
ENST00000493919.5:c.781del	ENSP00000418819.1:p.Met261TrpfsTer4
ENST00000586385.5:c.5-18579del	ENSP00000465818.1:n.5-18579del
ENST00000591534.5:c.-43-8009del	ENSP00000467329.1:n.-43-8009del
ENST00000591849.5:c.-98-32340del	ENSP00000465347.1:n.-98-32340del
ENST00000621897.1:n.125del
NM_007294.3:c.4231del , LRG_292t1:c.4231del	NP_009225.1:p.Met1411TrpfsTer4
NM_007297.3:c.4090del	NP_009228.2:p.Met1364TrpfsTer4
NM_007298.3:c.922del	NP_009229.2:p.Met308TrpfsTer4
NM_007299.3:c.922del	NP_009230.2:p.Met308TrpfsTer4
NM_007300.3:c.4231del	NP_009231.2:p.Met1411TrpfsTer4
NR_027676.1:n.4367del
NM_007294.4:c.4231del MANE Select	NP_009225.1:p.Met1411TrpfsTer4
NM_007297.4:c.4090del	NP_009228.2:p.Met1364TrpfsTer4
NM_007299.4:c.922del	NP_009230.2:p.Met308TrpfsTer4
NM_007300.4:c.4231del	NP_009231.2:p.Met1411TrpfsTer4
NR_027676.2:n.4408del