Canonical Allele Identifier: CA2573154030

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1409786
• ClinVar RCV Id: RCV001939922
• dbSNP Id: rs2153826963

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071036del , CM000679.2:g.43071036del	GRCh38
NC_000017.10:g.41223053del , CM000679.1:g.41223053del	GRCh37
NC_000017.9:g.38476579del	NCBI36
NG_005905.2:g.146948del , LRG_292:g.146948del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4875del	ENSP00000417241.2:p.Asn1625LysfsTer7
ENST00000470026.6:c.4878del	ENSP00000419274.2:p.Asn1626LysfsTer7
ENST00000473961.6:c.4752del	ENSP00000420201.2:p.Asn1584LysfsTer7
ENST00000476777.6:c.4872del	ENSP00000417554.2:p.Asn1624LysfsTer7
ENST00000477152.6:c.4800del	ENSP00000419988.2:p.Asn1600LysfsTer7
ENST00000478531.6:c.1566del	ENSP00000420412.2:p.Asn522LysfsTer7
ENST00000489037.2:c.4800del	ENSP00000420781.2:p.Asn1600LysfsTer7
ENST00000493919.6:c.1428del	ENSP00000418819.2:p.Asn476LysfsTer7
ENST00000494123.6:c.4878del	ENSP00000419103.2:p.Asn1626LysfsTer7
ENST00000497488.2:c.3990del	ENSP00000418986.2:p.Asn1330LysfsTer7
ENST00000618469.2:c.4878del	ENSP00000478114.2:p.Asn1626LysfsTer7
ENST00000634433.2:c.4755del	ENSP00000489431.2:p.Asn1585LysfsTer7
ENST00000644379.2:c.4944del	ENSP00000496570.2:p.Asn1648LysfsTer7
ENST00000644555.2:c.1428del	ENSP00000494614.2:p.Asn476LysfsTer7
ENST00000652672.2:c.4737del	ENSP00000498906.2:p.Asn1579LysfsTer7
ENST00000484087.6:c.1440del	ENSP00000419481.2:p.Asn480LysfsTer7
ENST00000700182.1:c.1485del	ENSP00000514849.1:p.Asn495LysfsTer7
ENST00000357654.9:c.4878del MANE Select	ENSP00000350283.3:p.Asn1626LysfsTer7
ENST00000471181.7:c.4941del	ENSP00000418960.2:p.Asn1647LysfsTer7
ENST00000644379.1:c.1265del
ENST00000352993.7:c.1452del	ENSP00000312236.5:p.Asn484LysfsTer7
ENST00000357654.7:c.4878del	ENSP00000350283.3:p.Asn1626LysfsTer7
ENST00000461221.5:c.*4661del	ENSP00000418548.1:n.*4661del
ENST00000468300.5:c.1566del	ENSP00000417148.1:p.Asn522LysfsTer7
ENST00000471181.6:c.4941del	ENSP00000418960.2:p.Asn1647LysfsTer7
ENST00000472490.1:n.31del
ENST00000478531.5:c.1566del	ENSP00000420412.1:p.Asn522LysfsTer7
ENST00000484087.5:c.1191del	ENSP00000419481.1:p.Asn397LysfsTer7
ENST00000491747.6:c.1566del	ENSP00000420705.2:p.Asn522LysfsTer7
ENST00000493795.5:c.4737del	ENSP00000418775.1:p.Asn1579LysfsTer7
ENST00000493919.5:c.1428del	ENSP00000418819.1:p.Asn476LysfsTer7
ENST00000586385.5:c.5-7085del	ENSP00000465818.1:n.5-7085del
ENST00000591534.5:c.351del	ENSP00000467329.1:p.Asn117LysfsTer7
ENST00000591849.5:c.-98-20846del	ENSP00000465347.1:n.-98-20846del
NM_007294.3:c.4878del , LRG_292t1:c.4878del	NP_009225.1:p.Asn1626LysfsTer7
NM_007297.3:c.4737del	NP_009228.2:p.Asn1579LysfsTer7
NM_007298.3:c.1566del	NP_009229.2:p.Asn522LysfsTer7
NM_007299.3:c.1566del	NP_009230.2:p.Asn522LysfsTer7
NM_007300.3:c.4941del	NP_009231.2:p.Asn1647LysfsTer7
NR_027676.1:n.5014del
NM_007294.4:c.4878del MANE Select	NP_009225.1:p.Asn1626LysfsTer7
NM_007297.4:c.4737del	NP_009228.2:p.Asn1579LysfsTer7
NM_007299.4:c.1566del	NP_009230.2:p.Asn522LysfsTer7
NM_007300.4:c.4941del	NP_009231.2:p.Asn1647LysfsTer7
NR_027676.2:n.5055del