Canonical Allele Identifier: CA002330

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54950
• ClinVar RCV Id: RCV000112144 ; RCV000215002 ; RCV000657207 ; RCV000779903
• dbSNP Id: rs80357805
• MyVariant Identifiers: chr17:g.41243905_41243906del (hg19) ; chr17:g.43091888_43091889del (hg38)
• PubMed: PMID:11748848

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091891_43091892del , CM000679.2:g.43091891_43091892del	GRCh38
NC_000017.10:g.41243908_41243909del , CM000679.1:g.41243908_41243909del	GRCh37
NC_000017.9:g.38497434_38497435del	NCBI36
NG_005905.2:g.126095_126096del , LRG_292:g.126095_126096del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3706_3707del
ENST00000461574.2:c.3642_3643del	ENSP00000417241.2:p.Asn1215LeufsTer3
ENST00000470026.6:c.3642_3643del	ENSP00000419274.2:p.Asn1215LeufsTer3
ENST00000473961.6:c.3516_3517del	ENSP00000420201.2:p.Asn1173LeufsTer3
ENST00000476777.6:c.3639_3640del	ENSP00000417554.2:p.Asn1214LeufsTer3
ENST00000477152.6:c.3564_3565del	ENSP00000419988.2:p.Asn1189LeufsTer3
ENST00000478531.6:c.785-857_785-856del	ENSP00000420412.2:n.785-857_785-856del
ENST00000489037.2:c.3564_3565del	ENSP00000420781.2:p.Asn1189LeufsTer3
ENST00000493919.6:c.647-857_647-856del	ENSP00000418819.2:n.647-857_647-856del
ENST00000494123.6:c.3642_3643del	ENSP00000419103.2:p.Asn1215LeufsTer3
ENST00000497488.2:c.2754_2755del	ENSP00000418986.2:p.Asn919LeufsTer3
ENST00000618469.2:c.3642_3643del	ENSP00000478114.2:p.Asn1215LeufsTer3
ENST00000634433.2:c.3519_3520del	ENSP00000489431.2:p.Asn1174LeufsTer3
ENST00000644379.2:c.3642_3643del	ENSP00000496570.2:p.Asn1215LeufsTer3
ENST00000644555.2:c.647-857_647-856del	ENSP00000494614.2:n.647-857_647-856del
ENST00000652672.2:c.3501_3502del	ENSP00000498906.2:p.Asn1168LeufsTer3
ENST00000484087.6:c.665-857_665-856del	ENSP00000419481.2:n.665-857_665-856del
ENST00000700182.1:c.707-857_707-856del	ENSP00000514849.1:n.707-857_707-856del
ENST00000357654.9:c.3642_3643del MANE Select	ENSP00000350283.3:p.Asn1215LeufsTer3
ENST00000471181.7:c.3642_3643del	ENSP00000418960.2:p.Asn1215LeufsTer3
ENST00000352993.7:c.671-857_671-856del	ENSP00000312236.5:n.671-857_671-856del
ENST00000354071.7:c.3642_3643del	ENSP00000326002.7:p.Asn1215LeufsTer3
ENST00000357654.7:c.3642_3643del	ENSP00000350283.3:p.Asn1215LeufsTer3
ENST00000461221.5:c.*3425_*3426del	ENSP00000418548.1:n.*3425_*3426del
ENST00000468300.5:c.788-857_788-856del	ENSP00000417148.1:n.788-857_788-856del
ENST00000471181.6:c.3642_3643del	ENSP00000418960.2:p.Asn1215LeufsTer3
ENST00000478531.5:c.785-857_785-856del	ENSP00000420412.1:n.785-857_785-856del
ENST00000484087.5:c.410-857_410-856del	ENSP00000419481.1:n.410-857_410-856del
ENST00000487825.5:c.413-857_413-856del	ENSP00000418212.1:n.413-857_413-856del
ENST00000491747.6:c.788-857_788-856del	ENSP00000420705.2:n.788-857_788-856del
ENST00000493795.5:c.3501_3502del	ENSP00000418775.1:p.Asn1168LeufsTer3
ENST00000493919.5:c.647-857_647-856del	ENSP00000418819.1:n.647-857_647-856del
ENST00000586385.5:c.5-27938_5-27937del	ENSP00000465818.1:n.5-27938_5-27937del
ENST00000591534.5:c.-43-17368_-43-17367del	ENSP00000467329.1:n.-43-17368_-43-17367de...
ENST00000591849.5:c.-99+33382_-99+33383del	ENSP00000465347.1:n.-99+33382_-99+33383de...
NM_007294.3:c.3642_3643del , LRG_292t1:c.3642_3643del	NP_009225.1:p.Asn1215LeufsTer3
NM_007297.3:c.3501_3502del	NP_009228.2:p.Asn1168LeufsTer3
NM_007298.3:c.788-857_788-856del	NP_009229.2:n.788-857_788-856del
NM_007299.3:c.788-857_788-856del	NP_009230.2:n.788-857_788-856del
NM_007300.3:c.3642_3643del	NP_009231.2:p.Asn1215LeufsTer3
NR_027676.1:n.3778_3779del
NM_007294.4:c.3642_3643del MANE Select	NP_009225.1:p.Asn1215LeufsTer3
NM_007297.4:c.3501_3502del	NP_009228.2:p.Asn1168LeufsTer3
NM_007299.4:c.788-857_788-856del	NP_009230.2:n.788-857_788-856del
NM_007300.4:c.3642_3643del	NP_009231.2:p.Asn1215LeufsTer3
NR_027676.2:n.3819_3820del