Canonical Allele Identifier: CA002293

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54928
• ClinVar RCV Id: RCV000241176
• dbSNP Id: rs397509086
• MyVariant Identifiers: chr17:g.41243946_41243952del (hg19) ; chr17:g.43091929_43091935del (hg38)
• PubMed: PMID:20858050

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091931_43091937del , CM000679.2:g.43091931_43091937del	GRCh38
NC_000017.10:g.41243948_41243954del , CM000679.1:g.41243948_41243954del	GRCh37
NC_000017.9:g.38497474_38497480del	NCBI36
NG_005905.2:g.126049_126055del , LRG_292:g.126049_126055del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3660_3666del
ENST00000461574.2:c.3596_3602del	ENSP00000417241.2:p.Ala1199ValfsTer9
ENST00000470026.6:c.3596_3602del	ENSP00000419274.2:p.Ala1199ValfsTer9
ENST00000473961.6:c.3470_3476del	ENSP00000420201.2:p.Ala1157ValfsTer9
ENST00000476777.6:c.3593_3599del	ENSP00000417554.2:p.Ala1198ValfsTer9
ENST00000477152.6:c.3518_3524del	ENSP00000419988.2:p.Ala1173ValfsTer9
ENST00000478531.6:c.785-903_785-897del	ENSP00000420412.2:n.785-903_785-897del
ENST00000489037.2:c.3518_3524del	ENSP00000420781.2:p.Ala1173ValfsTer9
ENST00000493919.6:c.647-903_647-897del	ENSP00000418819.2:n.647-903_647-897del
ENST00000494123.6:c.3596_3602del	ENSP00000419103.2:p.Ala1199ValfsTer9
ENST00000497488.2:c.2708_2714del	ENSP00000418986.2:p.Ala903ValfsTer9
ENST00000618469.2:c.3596_3602del	ENSP00000478114.2:p.Ala1199ValfsTer9
ENST00000634433.2:c.3473_3479del	ENSP00000489431.2:p.Ala1158ValfsTer9
ENST00000644379.2:c.3596_3602del	ENSP00000496570.2:p.Ala1199ValfsTer9
ENST00000644555.2:c.647-903_647-897del	ENSP00000494614.2:n.647-903_647-897del
ENST00000652672.2:c.3455_3461del	ENSP00000498906.2:p.Ala1152ValfsTer9
ENST00000484087.6:c.665-903_665-897del	ENSP00000419481.2:n.665-903_665-897del
ENST00000700182.1:c.707-903_707-897del	ENSP00000514849.1:n.707-903_707-897del
ENST00000357654.9:c.3596_3602del MANE Select	ENSP00000350283.3:p.Ala1199ValfsTer9
ENST00000471181.7:c.3596_3602del	ENSP00000418960.2:p.Ala1199ValfsTer9
ENST00000352993.7:c.671-903_671-897del	ENSP00000312236.5:n.671-903_671-897del
ENST00000354071.7:c.3596_3602del	ENSP00000326002.7:p.Ala1199ValfsTer9
ENST00000357654.7:c.3596_3602del	ENSP00000350283.3:p.Ala1199ValfsTer9
ENST00000461221.5:c.*3379_*3385del	ENSP00000418548.1:n.*3379_*3385del
ENST00000468300.5:c.788-903_788-897del	ENSP00000417148.1:n.788-903_788-897del
ENST00000471181.6:c.3596_3602del	ENSP00000418960.2:p.Ala1199ValfsTer9
ENST00000478531.5:c.785-903_785-897del	ENSP00000420412.1:n.785-903_785-897del
ENST00000484087.5:c.410-903_410-897del	ENSP00000419481.1:n.410-903_410-897del
ENST00000487825.5:c.413-903_413-897del	ENSP00000418212.1:n.413-903_413-897del
ENST00000491747.6:c.788-903_788-897del	ENSP00000420705.2:n.788-903_788-897del
ENST00000493795.5:c.3455_3461del	ENSP00000418775.1:p.Ala1152ValfsTer9
ENST00000493919.5:c.647-903_647-897del	ENSP00000418819.1:n.647-903_647-897del
ENST00000586385.5:c.5-27984_5-27978del	ENSP00000465818.1:n.5-27984_5-27978del
ENST00000591534.5:c.-43-17414_-43-17408del	ENSP00000467329.1:n.-43-17414_-43-17408del
ENST00000591849.5:c.-99+33336_-99+33342del	ENSP00000465347.1:n.-99+33336_-99+33342del
NM_007294.3:c.3596_3602del , LRG_292t1:c.3596_3602del	NP_009225.1:p.Ala1199ValfsTer9
NM_007297.3:c.3455_3461del	NP_009228.2:p.Ala1152ValfsTer9
NM_007298.3:c.788-903_788-897del	NP_009229.2:n.788-903_788-897del
NM_007299.3:c.788-903_788-897del	NP_009230.2:n.788-903_788-897del
NM_007300.3:c.3596_3602del	NP_009231.2:p.Ala1199ValfsTer9
NR_027676.1:n.3732_3738del
NM_007294.4:c.3596_3602del MANE Select	NP_009225.1:p.Ala1199ValfsTer9
NM_007297.4:c.3455_3461del	NP_009228.2:p.Ala1152ValfsTer9
NM_007299.4:c.788-903_788-897del	NP_009230.2:n.788-903_788-897del
NM_007300.4:c.3596_3602del	NP_009231.2:p.Ala1199ValfsTer9
NR_027676.2:n.3773_3779del