Canonical Allele Identifier: CA002195

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54865
• ClinVar RCV Id: RCV000112085 ; RCV003162407 ; RCV003226181
• dbSNP Id: rs80357577
• MyVariant Identifiers: chr17:g.41244150_41244151del (hg19) ; chr17:g.43092133_43092134del (hg38)
• PubMed: PMID:11595708 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092133_43092134del , CM000679.2:g.43092133_43092134del	GRCh38
NC_000017.10:g.41244150_41244151del , CM000679.1:g.41244150_41244151del	GRCh37
NC_000017.9:g.38497676_38497677del	NCBI36
NG_005905.2:g.125850_125851del , LRG_292:g.125850_125851del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3461_3462del
ENST00000461574.2:c.3397_3398del	ENSP00000417241.2:p.Leu1133ArgfsTer7
ENST00000470026.6:c.3397_3398del	ENSP00000419274.2:p.Leu1133ArgfsTer7
ENST00000473961.6:c.3271_3272del	ENSP00000420201.2:p.Leu1091ArgfsTer7
ENST00000476777.6:c.3394_3395del	ENSP00000417554.2:p.Leu1132ArgfsTer7
ENST00000477152.6:c.3319_3320del	ENSP00000419988.2:p.Leu1107ArgfsTer7
ENST00000478531.6:c.785-1102_785-1101del	ENSP00000420412.2:n.785-1102_785-1101del
ENST00000489037.2:c.3319_3320del	ENSP00000420781.2:p.Leu1107ArgfsTer7
ENST00000493919.6:c.647-1102_647-1101del	ENSP00000418819.2:n.647-1102_647-1101del
ENST00000494123.6:c.3397_3398del	ENSP00000419103.2:p.Leu1133ArgfsTer7
ENST00000497488.2:c.2509_2510del	ENSP00000418986.2:p.Leu837ArgfsTer7
ENST00000618469.2:c.3397_3398del	ENSP00000478114.2:p.Leu1133ArgfsTer7
ENST00000634433.2:c.3274_3275del	ENSP00000489431.2:p.Leu1092ArgfsTer7
ENST00000644379.2:c.3397_3398del	ENSP00000496570.2:p.Leu1133ArgfsTer7
ENST00000644555.2:c.647-1102_647-1101del	ENSP00000494614.2:n.647-1102_647-1101del
ENST00000652672.2:c.3256_3257del	ENSP00000498906.2:p.Leu1086ArgfsTer7
ENST00000484087.6:c.665-1102_665-1101del	ENSP00000419481.2:n.665-1102_665-1101del
ENST00000700182.1:c.707-1102_707-1101del	ENSP00000514849.1:n.707-1102_707-1101del
ENST00000357654.9:c.3397_3398del MANE Select	ENSP00000350283.3:p.Leu1133ArgfsTer7
ENST00000471181.7:c.3397_3398del	ENSP00000418960.2:p.Leu1133ArgfsTer7
ENST00000352993.7:c.671-1102_671-1101del	ENSP00000312236.5:n.671-1102_671-1101del
ENST00000354071.7:c.3397_3398del	ENSP00000326002.7:p.Leu1133ArgfsTer7
ENST00000357654.7:c.3397_3398del	ENSP00000350283.3:p.Leu1133ArgfsTer7
ENST00000461221.5:c.*3180_*3181del	ENSP00000418548.1:n.*3180_*3181del
ENST00000468300.5:c.788-1102_788-1101del	ENSP00000417148.1:n.788-1102_788-1101del
ENST00000471181.6:c.3397_3398del	ENSP00000418960.2:p.Leu1133ArgfsTer7
ENST00000478531.5:c.785-1102_785-1101del	ENSP00000420412.1:n.785-1102_785-1101del
ENST00000484087.5:c.410-1102_410-1101del	ENSP00000419481.1:n.410-1102_410-1101del
ENST00000487825.5:c.413-1102_413-1101del	ENSP00000418212.1:n.413-1102_413-1101del
ENST00000491747.6:c.788-1102_788-1101del	ENSP00000420705.2:n.788-1102_788-1101del
ENST00000493795.5:c.3256_3257del	ENSP00000418775.1:p.Leu1086ArgfsTer7
ENST00000493919.5:c.647-1102_647-1101del	ENSP00000418819.1:n.647-1102_647-1101del
ENST00000586385.5:c.5-28183_5-28182del	ENSP00000465818.1:n.5-28183_5-28182del
ENST00000591534.5:c.-43-17613_-43-17612del	ENSP00000467329.1:n.-43-17613_-43-17612del
ENST00000591849.5:c.-99+33137_-99+33138del	ENSP00000465347.1:n.-99+33137_-99+33138del
NM_007294.3:c.3397_3398del , LRG_292t1:c.3397_3398del	NP_009225.1:p.Leu1133ArgfsTer7
NM_007297.3:c.3256_3257del	NP_009228.2:p.Leu1086ArgfsTer7
NM_007298.3:c.788-1102_788-1101del	NP_009229.2:n.788-1102_788-1101del
NM_007299.3:c.788-1102_788-1101del	NP_009230.2:n.788-1102_788-1101del
NM_007300.3:c.3397_3398del	NP_009231.2:p.Leu1133ArgfsTer7
NR_027676.1:n.3533_3534del
NM_007294.4:c.3397_3398del MANE Select	NP_009225.1:p.Leu1133ArgfsTer7
NM_007297.4:c.3256_3257del	NP_009228.2:p.Leu1086ArgfsTer7
NM_007299.4:c.788-1102_788-1101del	NP_009230.2:n.788-1102_788-1101del
NM_007300.4:c.3397_3398del	NP_009231.2:p.Leu1133ArgfsTer7
NR_027676.2:n.3574_3575del