Canonical Allele Identifier: CA002174

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54854
• ClinVar RCV Id: RCV000256763 ; RCV001232187
• dbSNP Id: rs397509059
• MyVariant Identifiers: chr17:g.41244193_41244194del (hg19) ; chr17:g.43092176_43092177del (hg38)
• PubMed: PMID:16287141

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092177_43092178del , CM000679.2:g.43092177_43092178del	GRCh38
NC_000017.10:g.41244194_41244195del , CM000679.1:g.41244194_41244195del	GRCh37
NC_000017.9:g.38497720_38497721del	NCBI36
NG_005905.2:g.125807_125808del , LRG_292:g.125807_125808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3418_3419del
ENST00000461574.2:c.3354_3355del	ENSP00000417241.2:p.Gln1118HisfsTer3
ENST00000470026.6:c.3354_3355del	ENSP00000419274.2:p.Gln1118HisfsTer3
ENST00000473961.6:c.3228_3229del	ENSP00000420201.2:p.Gln1076HisfsTer3
ENST00000476777.6:c.3351_3352del	ENSP00000417554.2:p.Gln1117HisfsTer3
ENST00000477152.6:c.3276_3277del	ENSP00000419988.2:p.Gln1092HisfsTer3
ENST00000478531.6:c.785-1145_785-1144del	ENSP00000420412.2:n.785-1145_785-1144del
ENST00000489037.2:c.3276_3277del	ENSP00000420781.2:p.Gln1092HisfsTer3
ENST00000493919.6:c.647-1145_647-1144del	ENSP00000418819.2:n.647-1145_647-1144del
ENST00000494123.6:c.3354_3355del	ENSP00000419103.2:p.Gln1118HisfsTer3
ENST00000497488.2:c.2466_2467del	ENSP00000418986.2:p.Gln822HisfsTer3
ENST00000618469.2:c.3354_3355del	ENSP00000478114.2:p.Gln1118HisfsTer3
ENST00000634433.2:c.3231_3232del	ENSP00000489431.2:p.Gln1077HisfsTer3
ENST00000644379.2:c.3354_3355del	ENSP00000496570.2:p.Gln1118HisfsTer3
ENST00000644555.2:c.647-1145_647-1144del	ENSP00000494614.2:n.647-1145_647-1144del
ENST00000652672.2:c.3213_3214del	ENSP00000498906.2:p.Gln1071HisfsTer3
ENST00000484087.6:c.665-1145_665-1144del	ENSP00000419481.2:n.665-1145_665-1144del
ENST00000700182.1:c.707-1145_707-1144del	ENSP00000514849.1:n.707-1145_707-1144del
ENST00000357654.9:c.3354_3355del MANE Select	ENSP00000350283.3:p.Gln1118HisfsTer3
ENST00000471181.7:c.3354_3355del	ENSP00000418960.2:p.Gln1118HisfsTer3
ENST00000352993.7:c.671-1145_671-1144del	ENSP00000312236.5:n.671-1145_671-1144del
ENST00000354071.7:c.3354_3355del	ENSP00000326002.7:p.Gln1118HisfsTer3
ENST00000357654.7:c.3354_3355del	ENSP00000350283.3:p.Gln1118HisfsTer3
ENST00000461221.5:c.*3137_*3138del	ENSP00000418548.1:n.*3137_*3138del
ENST00000468300.5:c.788-1145_788-1144del	ENSP00000417148.1:n.788-1145_788-1144del
ENST00000471181.6:c.3354_3355del	ENSP00000418960.2:p.Gln1118HisfsTer3
ENST00000478531.5:c.785-1145_785-1144del	ENSP00000420412.1:n.785-1145_785-1144del
ENST00000484087.5:c.410-1145_410-1144del	ENSP00000419481.1:n.410-1145_410-1144del
ENST00000487825.5:c.413-1145_413-1144del	ENSP00000418212.1:n.413-1145_413-1144del
ENST00000491747.6:c.788-1145_788-1144del	ENSP00000420705.2:n.788-1145_788-1144del
ENST00000493795.5:c.3213_3214del	ENSP00000418775.1:p.Gln1071HisfsTer3
ENST00000493919.5:c.647-1145_647-1144del	ENSP00000418819.1:n.647-1145_647-1144del
ENST00000586385.5:c.5-28226_5-28225del	ENSP00000465818.1:n.5-28226_5-28225del
ENST00000591534.5:c.-43-17656_-43-17655del	ENSP00000467329.1:n.-43-17656_-43-17655del
ENST00000591849.5:c.-99+33094_-99+33095del	ENSP00000465347.1:n.-99+33094_-99+33095del
NM_007294.3:c.3354_3355del , LRG_292t1:c.3354_3355del	NP_009225.1:p.Gln1118HisfsTer3
NM_007297.3:c.3213_3214del	NP_009228.2:p.Gln1071HisfsTer3
NM_007298.3:c.788-1145_788-1144del	NP_009229.2:n.788-1145_788-1144del
NM_007299.3:c.788-1145_788-1144del	NP_009230.2:n.788-1145_788-1144del
NM_007300.3:c.3354_3355del	NP_009231.2:p.Gln1118HisfsTer3
NR_027676.1:n.3490_3491del
NM_007294.4:c.3354_3355del MANE Select	NP_009225.1:p.Gln1118HisfsTer3
NM_007297.4:c.3213_3214del	NP_009228.2:p.Gln1071HisfsTer3
NM_007299.4:c.788-1145_788-1144del	NP_009230.2:n.788-1145_788-1144del
NM_007300.4:c.3354_3355del	NP_009231.2:p.Gln1118HisfsTer3
NR_027676.2:n.3531_3532del