Canonical Allele Identifier: CA002613

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55101
• ClinVar RCV Id: RCV000257689 ; RCV001853006
• dbSNP Id: rs397509137
• MyVariant Identifiers: chr17:g.41243455_41243456del (hg19) ; chr17:g.43091438_43091439del (hg38)
• PubMed: PMID:22798144

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091438_43091439del , CM000679.2:g.43091438_43091439del	GRCh38
NC_000017.10:g.41243455_41243456del , CM000679.1:g.41243455_41243456del	GRCh37
NC_000017.9:g.38496981_38496982del	NCBI36
NG_005905.2:g.126545_126546del , LRG_292:g.126545_126546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4156_4157del
ENST00000461574.2:c.4092_4093del	ENSP00000417241.2:p.Leu1365ArgfsTer2
ENST00000470026.6:c.4092_4093del	ENSP00000419274.2:p.Leu1365ArgfsTer2
ENST00000473961.6:c.3966_3967del	ENSP00000420201.2:p.Leu1323ArgfsTer2
ENST00000476777.6:c.4089_4090del	ENSP00000417554.2:p.Leu1364ArgfsTer2
ENST00000477152.6:c.4014_4015del	ENSP00000419988.2:p.Leu1339ArgfsTer2
ENST00000478531.6:c.785-407_785-406del	ENSP00000420412.2:n.785-407_785-406del
ENST00000489037.2:c.4014_4015del	ENSP00000420781.2:p.Leu1339ArgfsTer2
ENST00000493919.6:c.647-407_647-406del	ENSP00000418819.2:n.647-407_647-406del
ENST00000494123.6:c.4092_4093del	ENSP00000419103.2:p.Leu1365ArgfsTer2
ENST00000497488.2:c.3204_3205del	ENSP00000418986.2:p.Leu1069ArgfsTer2
ENST00000618469.2:c.4092_4093del	ENSP00000478114.2:p.Leu1365ArgfsTer2
ENST00000634433.2:c.3969_3970del	ENSP00000489431.2:p.Leu1324ArgfsTer2
ENST00000644379.2:c.4092_4093del	ENSP00000496570.2:p.Leu1365ArgfsTer2
ENST00000644555.2:c.647-407_647-406del	ENSP00000494614.2:n.647-407_647-406del
ENST00000652672.2:c.3951_3952del	ENSP00000498906.2:p.Leu1318ArgfsTer2
ENST00000484087.6:c.665-407_665-406del	ENSP00000419481.2:n.665-407_665-406del
ENST00000700182.1:c.707-407_707-406del	ENSP00000514849.1:n.707-407_707-406del
ENST00000357654.9:c.4092_4093del MANE Select	ENSP00000350283.3:p.Leu1365ArgfsTer2
ENST00000471181.7:c.4092_4093del	ENSP00000418960.2:p.Leu1365ArgfsTer2
ENST00000644379.1:c.413_414del
ENST00000352993.7:c.671-407_671-406del	ENSP00000312236.5:n.671-407_671-406del
ENST00000354071.7:c.4092_4093del	ENSP00000326002.7:p.Leu1365ArgfsTer15
ENST00000357654.7:c.4092_4093del	ENSP00000350283.3:p.Leu1365ArgfsTer2
ENST00000461221.5:c.*3875_*3876del	ENSP00000418548.1:n.*3875_*3876del
ENST00000461574.1:c.386_387del
ENST00000468300.5:c.788-407_788-406del	ENSP00000417148.1:n.788-407_788-406del
ENST00000471181.6:c.4092_4093del	ENSP00000418960.2:p.Leu1365ArgfsTer2
ENST00000478531.5:c.785-407_785-406del	ENSP00000420412.1:n.785-407_785-406del
ENST00000484087.5:c.410-407_410-406del	ENSP00000419481.1:n.410-407_410-406del
ENST00000487825.5:c.413-407_413-406del	ENSP00000418212.1:n.413-407_413-406del
ENST00000491747.6:c.788-407_788-406del	ENSP00000420705.2:n.788-407_788-406del
ENST00000493795.5:c.3951_3952del	ENSP00000418775.1:p.Leu1318ArgfsTer2
ENST00000493919.5:c.647-407_647-406del	ENSP00000418819.1:n.647-407_647-406del
ENST00000586385.5:c.5-27488_5-27487del	ENSP00000465818.1:n.5-27488_5-27487del
ENST00000591534.5:c.-43-16918_-43-16917del	ENSP00000467329.1:n.-43-16918_-43-16917del
ENST00000591849.5:c.-99+33832_-99+33833del	ENSP00000465347.1:n.-99+33832_-99+33833del
NM_007294.3:c.4092_4093del , LRG_292t1:c.4092_4093del	NP_009225.1:p.Leu1365ArgfsTer2
NM_007297.3:c.3951_3952del	NP_009228.2:p.Leu1318ArgfsTer2
NM_007298.3:c.788-407_788-406del	NP_009229.2:n.788-407_788-406del
NM_007299.3:c.788-407_788-406del	NP_009230.2:n.788-407_788-406del
NM_007300.3:c.4092_4093del	NP_009231.2:p.Leu1365ArgfsTer2
NR_027676.1:n.4228_4229del
NM_007294.4:c.4092_4093del MANE Select	NP_009225.1:p.Leu1365ArgfsTer2
NM_007297.4:c.3951_3952del	NP_009228.2:p.Leu1318ArgfsTer2
NM_007299.4:c.788-407_788-406del	NP_009230.2:n.788-407_788-406del
NM_007300.4:c.4092_4093del	NP_009231.2:p.Leu1365ArgfsTer2
NR_027676.2:n.4269_4270del