Canonical Allele Identifier: CA002144

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54839
• ClinVar RCV Id: RCV001380015
• dbSNP Id: rs80357575
• MyVariant Identifiers: chr17:g.41244219_41244222del (hg19) ; chr17:g.43092202_43092205del (hg38)
• PubMed: PMID:22762150

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092204_43092207del , CM000679.2:g.43092204_43092207del	GRCh38
NC_000017.10:g.41244221_41244224del , CM000679.1:g.41244221_41244224del	GRCh37
NC_000017.9:g.38497747_38497750del	NCBI36
NG_005905.2:g.125779_125782del , LRG_292:g.125779_125782del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3390_3393del
ENST00000461574.2:c.3326_3329del	ENSP00000417241.2:p.Lys1109SerfsTer7
ENST00000470026.6:c.3326_3329del	ENSP00000419274.2:p.Lys1109SerfsTer7
ENST00000473961.6:c.3200_3203del	ENSP00000420201.2:p.Lys1067SerfsTer7
ENST00000476777.6:c.3323_3326del	ENSP00000417554.2:p.Lys1108SerfsTer7
ENST00000477152.6:c.3248_3251del	ENSP00000419988.2:p.Lys1083SerfsTer7
ENST00000478531.6:c.785-1173_785-1170del	ENSP00000420412.2:n.785-1173_785-1170del
ENST00000489037.2:c.3248_3251del	ENSP00000420781.2:p.Lys1083SerfsTer7
ENST00000493919.6:c.647-1173_647-1170del	ENSP00000418819.2:n.647-1173_647-1170del
ENST00000494123.6:c.3326_3329del	ENSP00000419103.2:p.Lys1109SerfsTer7
ENST00000497488.2:c.2438_2441del	ENSP00000418986.2:p.Lys813SerfsTer7
ENST00000618469.2:c.3326_3329del	ENSP00000478114.2:p.Lys1109SerfsTer7
ENST00000634433.2:c.3203_3206del	ENSP00000489431.2:p.Lys1068SerfsTer7
ENST00000644379.2:c.3326_3329del	ENSP00000496570.2:p.Lys1109SerfsTer7
ENST00000644555.2:c.647-1173_647-1170del	ENSP00000494614.2:n.647-1173_647-1170del
ENST00000652672.2:c.3185_3188del	ENSP00000498906.2:p.Lys1062SerfsTer7
ENST00000484087.6:c.665-1173_665-1170del	ENSP00000419481.2:n.665-1173_665-1170del
ENST00000700182.1:c.707-1173_707-1170del	ENSP00000514849.1:n.707-1173_707-1170del
ENST00000357654.9:c.3326_3329del MANE Select	ENSP00000350283.3:p.Lys1109SerfsTer7
ENST00000471181.7:c.3326_3329del	ENSP00000418960.2:p.Lys1109SerfsTer7
ENST00000352993.7:c.671-1173_671-1170del	ENSP00000312236.5:n.671-1173_671-1170del
ENST00000354071.7:c.3326_3329del	ENSP00000326002.7:p.Lys1109SerfsTer7
ENST00000357654.7:c.3326_3329del	ENSP00000350283.3:p.Lys1109SerfsTer7
ENST00000461221.5:c.*3109_*3112del	ENSP00000418548.1:n.*3109_*3112del
ENST00000468300.5:c.788-1173_788-1170del	ENSP00000417148.1:n.788-1173_788-1170del
ENST00000471181.6:c.3326_3329del	ENSP00000418960.2:p.Lys1109SerfsTer7
ENST00000478531.5:c.785-1173_785-1170del	ENSP00000420412.1:n.785-1173_785-1170del
ENST00000484087.5:c.410-1173_410-1170del	ENSP00000419481.1:n.410-1173_410-1170del
ENST00000487825.5:c.413-1173_413-1170del	ENSP00000418212.1:n.413-1173_413-1170del
ENST00000491747.6:c.788-1173_788-1170del	ENSP00000420705.2:n.788-1173_788-1170del
ENST00000493795.5:c.3185_3188del	ENSP00000418775.1:p.Lys1062SerfsTer7
ENST00000493919.5:c.647-1173_647-1170del	ENSP00000418819.1:n.647-1173_647-1170del
ENST00000586385.5:c.5-28254_5-28251del	ENSP00000465818.1:n.5-28254_5-28251del
ENST00000591534.5:c.-43-17684_-43-17681del	ENSP00000467329.1:n.-43-17684_-43-17681de...
ENST00000591849.5:c.-99+33066_-99+33069del	ENSP00000465347.1:n.-99+33066_-99+33069de...
NM_007294.3:c.3326_3329del , LRG_292t1:c.3326_3329del	NP_009225.1:p.Lys1109SerfsTer7
NM_007297.3:c.3185_3188del	NP_009228.2:p.Lys1062SerfsTer7
NM_007298.3:c.788-1173_788-1170del	NP_009229.2:n.788-1173_788-1170del
NM_007299.3:c.788-1173_788-1170del	NP_009230.2:n.788-1173_788-1170del
NM_007300.3:c.3326_3329del	NP_009231.2:p.Lys1109SerfsTer7
NR_027676.1:n.3462_3465del
NM_007294.4:c.3326_3329del MANE Select	NP_009225.1:p.Lys1109SerfsTer7
NM_007297.4:c.3185_3188del	NP_009228.2:p.Lys1062SerfsTer7
NM_007299.4:c.788-1173_788-1170del	NP_009230.2:n.788-1173_788-1170del
NM_007300.4:c.3326_3329del	NP_009231.2:p.Lys1109SerfsTer7
NR_027676.2:n.3503_3506del