Canonical Allele Identifier: CA002372

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54966
• ClinVar RCV Id: RCV000256531
• dbSNP Id: rs397509094
• MyVariant Identifiers: chr17:g.41243841_41243844del (hg19) ; chr17:g.43091824_43091827del (hg38)
• PubMed: PMID:19619314

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091826_43091829del , CM000679.2:g.43091826_43091829del	GRCh38
NC_000017.10:g.41243843_41243846del , CM000679.1:g.41243843_41243846del	GRCh37
NC_000017.9:g.38497369_38497372del	NCBI36
NG_005905.2:g.126157_126160del , LRG_292:g.126157_126160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3768_3771del
ENST00000461574.2:c.3704_3707del	ENSP00000417241.2:p.Asn1235IlefsTer28
ENST00000470026.6:c.3704_3707del	ENSP00000419274.2:p.Asn1235IlefsTer28
ENST00000473961.6:c.3578_3581del	ENSP00000420201.2:p.Asn1193IlefsTer28
ENST00000476777.6:c.3701_3704del	ENSP00000417554.2:p.Asn1234IlefsTer28
ENST00000477152.6:c.3626_3629del	ENSP00000419988.2:p.Asn1209IlefsTer28
ENST00000478531.6:c.785-795_785-792del	ENSP00000420412.2:n.785-795_785-792del
ENST00000489037.2:c.3626_3629del	ENSP00000420781.2:p.Asn1209IlefsTer28
ENST00000493919.6:c.647-795_647-792del	ENSP00000418819.2:n.647-795_647-792del
ENST00000494123.6:c.3704_3707del	ENSP00000419103.2:p.Asn1235IlefsTer28
ENST00000497488.2:c.2816_2819del	ENSP00000418986.2:p.Asn939IlefsTer28
ENST00000618469.2:c.3704_3707del	ENSP00000478114.2:p.Asn1235IlefsTer28
ENST00000634433.2:c.3581_3584del	ENSP00000489431.2:p.Asn1194IlefsTer28
ENST00000644379.2:c.3704_3707del	ENSP00000496570.2:p.Asn1235IlefsTer28
ENST00000644555.2:c.647-795_647-792del	ENSP00000494614.2:n.647-795_647-792del
ENST00000652672.2:c.3563_3566del	ENSP00000498906.2:p.Asn1188IlefsTer28
ENST00000484087.6:c.665-795_665-792del	ENSP00000419481.2:n.665-795_665-792del
ENST00000700182.1:c.707-795_707-792del	ENSP00000514849.1:n.707-795_707-792del
ENST00000357654.9:c.3704_3707del MANE Select	ENSP00000350283.3:p.Asn1235IlefsTer28
ENST00000471181.7:c.3704_3707del	ENSP00000418960.2:p.Asn1235IlefsTer28
ENST00000644379.1:c.25_28del
ENST00000352993.7:c.671-795_671-792del	ENSP00000312236.5:n.671-795_671-792del
ENST00000354071.7:c.3704_3707del	ENSP00000326002.7:p.Asn1235IlefsTer28
ENST00000357654.7:c.3704_3707del	ENSP00000350283.3:p.Asn1235IlefsTer28
ENST00000461221.5:c.*3487_*3490del	ENSP00000418548.1:n.*3487_*3490del
ENST00000468300.5:c.788-795_788-792del	ENSP00000417148.1:n.788-795_788-792del
ENST00000471181.6:c.3704_3707del	ENSP00000418960.2:p.Asn1235IlefsTer28
ENST00000478531.5:c.785-795_785-792del	ENSP00000420412.1:n.785-795_785-792del
ENST00000484087.5:c.410-795_410-792del	ENSP00000419481.1:n.410-795_410-792del
ENST00000487825.5:c.413-795_413-792del	ENSP00000418212.1:n.413-795_413-792del
ENST00000491747.6:c.788-795_788-792del	ENSP00000420705.2:n.788-795_788-792del
ENST00000493795.5:c.3563_3566del	ENSP00000418775.1:p.Asn1188IlefsTer28
ENST00000493919.5:c.647-795_647-792del	ENSP00000418819.1:n.647-795_647-792del
ENST00000586385.5:c.5-27876_5-27873del	ENSP00000465818.1:n.5-27876_5-27873del
ENST00000591534.5:c.-43-17306_-43-17303del	ENSP00000467329.1:n.-43-17306_-43-17303del
ENST00000591849.5:c.-99+33444_-99+33447del	ENSP00000465347.1:n.-99+33444_-99+33447del
NM_007294.3:c.3704_3707del , LRG_292t1:c.3704_3707del	NP_009225.1:p.Asn1235IlefsTer28
NM_007297.3:c.3563_3566del	NP_009228.2:p.Asn1188IlefsTer28
NM_007298.3:c.788-795_788-792del	NP_009229.2:n.788-795_788-792del
NM_007299.3:c.788-795_788-792del	NP_009230.2:n.788-795_788-792del
NM_007300.3:c.3704_3707del	NP_009231.2:p.Asn1235IlefsTer28
NR_027676.1:n.3840_3843del
NM_007294.4:c.3704_3707del MANE Select	NP_009225.1:p.Asn1235IlefsTer28
NM_007297.4:c.3563_3566del	NP_009228.2:p.Asn1188IlefsTer28
NM_007299.4:c.788-795_788-792del	NP_009230.2:n.788-795_788-792del
NM_007300.4:c.3704_3707del	NP_009231.2:p.Asn1235IlefsTer28
NR_027676.2:n.3881_3884del