Canonical Allele Identifier: CA002576

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 254451
• ClinVar RCV Id: RCV000241392
• dbSNP Id: rs273900721
• MyVariant Identifiers: chr17:g.41243509_41243510del (hg19) ; chr17:g.43091492_43091493del (hg38)
• PubMed: PMID:22866131

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091493_43091494del , CM000679.2:g.43091493_43091494del	GRCh38
NC_000017.10:g.41243510_41243511del , CM000679.1:g.41243510_41243511del	GRCh37
NC_000017.9:g.38497036_38497037del	NCBI36
NG_005905.2:g.126491_126492del , LRG_292:g.126491_126492del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4102_4103del
ENST00000461574.2:c.4038_4039del	ENSP00000417241.2:p.Gly1348AsnfsTer7
ENST00000470026.6:c.4038_4039del	ENSP00000419274.2:p.Gly1348AsnfsTer7
ENST00000473961.6:c.3912_3913del	ENSP00000420201.2:p.Gly1306AsnfsTer7
ENST00000476777.6:c.4035_4036del	ENSP00000417554.2:p.Gly1347AsnfsTer7
ENST00000477152.6:c.3960_3961del	ENSP00000419988.2:p.Gly1322AsnfsTer7
ENST00000478531.6:c.785-461_785-460del	ENSP00000420412.2:n.785-461_785-460del
ENST00000489037.2:c.3960_3961del	ENSP00000420781.2:p.Gly1322AsnfsTer7
ENST00000493919.6:c.647-461_647-460del	ENSP00000418819.2:n.647-461_647-460del
ENST00000494123.6:c.4038_4039del	ENSP00000419103.2:p.Gly1348AsnfsTer7
ENST00000497488.2:c.3150_3151del	ENSP00000418986.2:p.Gly1052AsnfsTer7
ENST00000618469.2:c.4038_4039del	ENSP00000478114.2:p.Gly1348AsnfsTer7
ENST00000634433.2:c.3915_3916del	ENSP00000489431.2:p.Gly1307AsnfsTer7
ENST00000644379.2:c.4038_4039del	ENSP00000496570.2:p.Gly1348AsnfsTer7
ENST00000644555.2:c.647-461_647-460del	ENSP00000494614.2:n.647-461_647-460del
ENST00000652672.2:c.3897_3898del	ENSP00000498906.2:p.Gly1301AsnfsTer7
ENST00000484087.6:c.665-461_665-460del	ENSP00000419481.2:n.665-461_665-460del
ENST00000700182.1:c.707-461_707-460del	ENSP00000514849.1:n.707-461_707-460del
ENST00000357654.9:c.4038_4039del MANE Select	ENSP00000350283.3:p.Gly1348AsnfsTer7
ENST00000471181.7:c.4038_4039del	ENSP00000418960.2:p.Gly1348AsnfsTer7
ENST00000644379.1:c.359_360del
ENST00000352993.7:c.671-461_671-460del	ENSP00000312236.5:n.671-461_671-460del
ENST00000354071.7:c.4038_4039del	ENSP00000326002.7:p.Gly1348AsnfsTer7
ENST00000357654.7:c.4038_4039del	ENSP00000350283.3:p.Gly1348AsnfsTer7
ENST00000461221.5:c.*3821_*3822del	ENSP00000418548.1:n.*3821_*3822del
ENST00000461574.1:c.332_333del
ENST00000468300.5:c.788-461_788-460del	ENSP00000417148.1:n.788-461_788-460del
ENST00000471181.6:c.4038_4039del	ENSP00000418960.2:p.Gly1348AsnfsTer7
ENST00000478531.5:c.785-461_785-460del	ENSP00000420412.1:n.785-461_785-460del
ENST00000484087.5:c.410-461_410-460del	ENSP00000419481.1:n.410-461_410-460del
ENST00000487825.5:c.413-461_413-460del	ENSP00000418212.1:n.413-461_413-460del
ENST00000491747.6:c.788-461_788-460del	ENSP00000420705.2:n.788-461_788-460del
ENST00000493795.5:c.3897_3898del	ENSP00000418775.1:p.Gly1301AsnfsTer7
ENST00000493919.5:c.647-461_647-460del	ENSP00000418819.1:n.647-461_647-460del
ENST00000586385.5:c.5-27542_5-27541del	ENSP00000465818.1:n.5-27542_5-27541del
ENST00000591534.5:c.-43-16972_-43-16971del	ENSP00000467329.1:n.-43-16972_-43-16971de...
ENST00000591849.5:c.-99+33778_-99+33779del	ENSP00000465347.1:n.-99+33778_-99+33779de...
NM_007294.3:c.4038_4039del , LRG_292t1:c.4038_4039del	NP_009225.1:p.Gly1348AsnfsTer7
NM_007297.3:c.3897_3898del	NP_009228.2:p.Gly1301AsnfsTer7
NM_007298.3:c.788-461_788-460del	NP_009229.2:n.788-461_788-460del
NM_007299.3:c.788-461_788-460del	NP_009230.2:n.788-461_788-460del
NM_007300.3:c.4038_4039del	NP_009231.2:p.Gly1348AsnfsTer7
NR_027676.1:n.4174_4175del
NM_007294.4:c.4038_4039del MANE Select	NP_009225.1:p.Gly1348AsnfsTer7
NM_007297.4:c.3897_3898del	NP_009228.2:p.Gly1301AsnfsTer7
NM_007299.4:c.788-461_788-460del	NP_009230.2:n.788-461_788-460del
NM_007300.4:c.4038_4039del	NP_009231.2:p.Gly1348AsnfsTer7
NR_027676.2:n.4215_4216del