Canonical Allele Identifier: CA002824

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 141260
• ClinVar RCV Id: RCV000129698 ; RCV000238940 ; RCV000496731
• dbSNP Id: rs587781611
• MyVariant Identifiers: chr17:g.41228588del (hg19) ; chr17:g.43076571del (hg38)
• PubMed: PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076571del , CM000679.2:g.43076571del	GRCh38
NC_000017.10:g.41228588del , CM000679.1:g.41228588del	GRCh37
NC_000017.9:g.38482114del	NCBI36
NG_005905.2:g.141413del , LRG_292:g.141413del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4398del	ENSP00000417241.2:p.Asn1467IlefsTer?
ENST00000470026.6:c.4401del	ENSP00000419274.2:p.Asn1468IlefsTer?
ENST00000473961.6:c.4275del	ENSP00000420201.2:p.Asn1426IlefsTer?
ENST00000476777.6:c.4395del	ENSP00000417554.2:p.Asn1466IlefsTer?
ENST00000477152.6:c.4323del	ENSP00000419988.2:p.Asn1442IlefsTer?
ENST00000478531.6:c.1089del	ENSP00000420412.2:p.Asn364IlefsTer?
ENST00000489037.2:c.4323del	ENSP00000420781.2:p.Asn1442IlefsTer?
ENST00000493919.6:c.951del	ENSP00000418819.2:p.Asn318IlefsTer?
ENST00000494123.6:c.4401del	ENSP00000419103.2:p.Asn1468IlefsTer?
ENST00000497488.2:c.3513del	ENSP00000418986.2:p.Asn1172IlefsTer?
ENST00000618469.2:c.4401del	ENSP00000478114.2:p.Asn1468IlefsTer?
ENST00000634433.2:c.4278del	ENSP00000489431.2:p.Asn1427IlefsTer?
ENST00000644379.2:c.4467del	ENSP00000496570.2:p.Asn1490IlefsTer?
ENST00000644555.2:c.951del	ENSP00000494614.2:p.Asn318IlefsTer?
ENST00000652672.2:c.4260del	ENSP00000498906.2:p.Asn1421IlefsTer?
ENST00000484087.6:c.963del	ENSP00000419481.2:p.Asn322IlefsTer?
ENST00000700182.1:c.1008del	ENSP00000514849.1:p.Asn337IlefsTer?
ENST00000357654.9:c.4401del MANE Select	ENSP00000350283.3:p.Asn1468IlefsTer?
ENST00000471181.7:c.4464del	ENSP00000418960.2:p.Asn1489IlefsTer?
ENST00000644379.1:c.788del
ENST00000352993.7:c.975del	ENSP00000312236.5:p.Asn326IlefsTer?
ENST00000357654.7:c.4401del	ENSP00000350283.3:p.Asn1468IlefsTer?
ENST00000461221.5:c.*4184del	ENSP00000418548.1:n.*4184del
ENST00000461574.1:c.692del
ENST00000468300.5:c.1089del	ENSP00000417148.1:p.Asn364IlefsTer?
ENST00000471181.6:c.4464del	ENSP00000418960.2:p.Asn1489IlefsTer?
ENST00000478531.5:c.1089del	ENSP00000420412.1:p.Asn364IlefsTer?
ENST00000484087.5:c.714del	ENSP00000419481.1:p.Asn239IlefsTer?
ENST00000487825.5:c.717del	ENSP00000418212.1:p.Asn240IlefsTer?
ENST00000491747.6:c.1089del	ENSP00000420705.2:p.Asn364IlefsTer?
ENST00000493795.5:c.4260del	ENSP00000418775.1:p.Asn1421IlefsTer?
ENST00000493919.5:c.951del	ENSP00000418819.1:p.Asn318IlefsTer?
ENST00000586385.5:c.5-12620del	ENSP00000465818.1:n.5-12620del
ENST00000591534.5:c.-43-2050del	ENSP00000467329.1:n.-43-2050del
ENST00000591849.5:c.-98-26381del	ENSP00000465347.1:n.-98-26381del
ENST00000621897.1:n.292del
NM_007294.3:c.4401del , LRG_292t1:c.4401del	NP_009225.1:p.Asn1468IlefsTer?
NM_007297.3:c.4260del	NP_009228.2:p.Asn1421IlefsTer?
NM_007298.3:c.1089del	NP_009229.2:p.Asn364IlefsTer?
NM_007299.3:c.1089del	NP_009230.2:p.Asn364IlefsTer?
NM_007300.3:c.4464del	NP_009231.2:p.Asn1489IlefsTer?
NR_027676.1:n.4537del
NM_007294.4:c.4401del MANE Select	NP_009225.1:p.Asn1468IlefsTer?
NM_007297.4:c.4260del	NP_009228.2:p.Asn1421IlefsTer?
NM_007299.4:c.1089del	NP_009230.2:p.Asn364IlefsTer?
NM_007300.4:c.4464del	NP_009231.2:p.Asn1489IlefsTer?
NR_027676.2:n.4578del