Canonical Allele Identifier: CA919844515

Gene: BRCA1

Linked Data

• dbSNP Id: rs397509065

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092111_43092112insAGTAGTCA , CM000679.2:g.43092111_43092112insAGTAGTCA	GRCh38
NC_000017.10:g.41244128_41244129insAGTAGTCA , CM000679.1:g.41244128_41244129insAGTAGTCA	GRCh37
NC_000017.9:g.38497654_38497655insAGTAGTCA	NCBI36
NG_005905.2:g.125873_125874insGACTACTT , LRG_292:g.125873_125874insGACTACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3484_3485insGACTACTT
ENST00000461574.2:c.3420_3421insGACTACTT	ENSP00000417241.2:p.His1141AspfsTer17
ENST00000470026.6:c.3420_3421insGACTACTT	ENSP00000419274.2:p.His1141AspfsTer17
ENST00000473961.6:c.3294_3295insGACTACTT	ENSP00000420201.2:p.His1099AspfsTer17
ENST00000476777.6:c.3417_3418insGACTACTT	ENSP00000417554.2:p.His1140AspfsTer17
ENST00000477152.6:c.3342_3343insGACTACTT	ENSP00000419988.2:p.His1115AspfsTer17
ENST00000478531.6:c.785-1079_785-1078insGACTACTT	ENSP00000420412.2:n.785-1079_785-1078insGACTACTT
ENST00000489037.2:c.3342_3343insGACTACTT	ENSP00000420781.2:p.His1115AspfsTer17
ENST00000493919.6:c.647-1079_647-1078insGACTACTT	ENSP00000418819.2:n.647-1079_647-1078insGACTACTT
ENST00000494123.6:c.3420_3421insGACTACTT	ENSP00000419103.2:p.His1141AspfsTer17
ENST00000497488.2:c.2532_2533insGACTACTT	ENSP00000418986.2:p.His845AspfsTer17
ENST00000618469.2:c.3420_3421insGACTACTT	ENSP00000478114.2:p.His1141AspfsTer17
ENST00000634433.2:c.3297_3298insGACTACTT	ENSP00000489431.2:p.His1100AspfsTer17
ENST00000644379.2:c.3420_3421insGACTACTT	ENSP00000496570.2:p.His1141AspfsTer17
ENST00000644555.2:c.647-1079_647-1078insGACTACTT	ENSP00000494614.2:n.647-1079_647-1078insGACTACTT
ENST00000652672.2:c.3279_3280insGACTACTT	ENSP00000498906.2:p.His1094AspfsTer17
ENST00000484087.6:c.665-1079_665-1078insGACTACTT	ENSP00000419481.2:n.665-1079_665-1078insGACTACTT
ENST00000700182.1:c.707-1079_707-1078insGACTACTT	ENSP00000514849.1:n.707-1079_707-1078insGACTACTT
ENST00000357654.9:c.3420_3421insGACTACTT MANE Select	ENSP00000350283.3:p.His1141AspfsTer17
ENST00000471181.7:c.3420_3421insGACTACTT	ENSP00000418960.2:p.His1141AspfsTer17
ENST00000352993.7:c.671-1079_671-1078insGACTACTT	ENSP00000312236.5:n.671-1079_671-1078insGACTACTT
ENST00000354071.7:c.3420_3421insGACTACTT	ENSP00000326002.7:p.His1141AspfsTer17
ENST00000357654.7:c.3420_3421insGACTACTT	ENSP00000350283.3:p.His1141AspfsTer17
ENST00000461221.5:c.*3203_*3204insGACTACTT	ENSP00000418548.1:n.*3203_*3204insGACTACTT
ENST00000468300.5:c.788-1079_788-1078insGACTACTT	ENSP00000417148.1:n.788-1079_788-1078insGACTACTT
ENST00000471181.6:c.3420_3421insGACTACTT	ENSP00000418960.2:p.His1141AspfsTer17
ENST00000478531.5:c.785-1079_785-1078insGACTACTT	ENSP00000420412.1:n.785-1079_785-1078insGACTACTT
ENST00000484087.5:c.410-1079_410-1078insGACTACTT	ENSP00000419481.1:n.410-1079_410-1078insGACTACTT
ENST00000487825.5:c.413-1079_413-1078insGACTACTT	ENSP00000418212.1:n.413-1079_413-1078insGACTACTT
ENST00000491747.6:c.788-1079_788-1078insGACTACTT	ENSP00000420705.2:n.788-1079_788-1078insGACTACTT
ENST00000493795.5:c.3279_3280insGACTACTT	ENSP00000418775.1:p.His1094AspfsTer17
ENST00000493919.5:c.647-1079_647-1078insGACTACTT	ENSP00000418819.1:n.647-1079_647-1078insGACTACTT
ENST00000586385.5:c.5-28160_5-28159insGACTACTT	ENSP00000465818.1:n.5-28160_5-28159insGACTACTT
ENST00000591534.5:c.-43-17590_-43-17589insGACTACTT	ENSP00000467329.1:n.-43-17590_-43-17589insGACTACTT
ENST00000591849.5:c.-99+33160_-99+33161insGACTACTT	ENSP00000465347.1:n.-99+33160_-99+33161insGACTACTT
NM_007294.3:c.3420_3421insGACTACTT , LRG_292t1:c.3420_3421insGACTACTT	NP_009225.1:p.His1141AspfsTer17
NM_007297.3:c.3279_3280insGACTACTT	NP_009228.2:p.His1094AspfsTer17
NM_007298.3:c.788-1079_788-1078insGACTACTT	NP_009229.2:n.788-1079_788-1078insGACTACTT
NM_007299.3:c.788-1079_788-1078insGACTACTT	NP_009230.2:n.788-1079_788-1078insGACTACTT
NM_007300.3:c.3420_3421insGACTACTT	NP_009231.2:p.His1141AspfsTer17
NR_027676.1:n.3556_3557insGACTACTT
NM_007294.4:c.3420_3421insGACTACTT MANE Select	NP_009225.1:p.His1141AspfsTer17
NM_007297.4:c.3279_3280insGACTACTT	NP_009228.2:p.His1094AspfsTer17
NM_007299.4:c.788-1079_788-1078insGACTACTT	NP_009230.2:n.788-1079_788-1078insGACTACTT
NM_007300.4:c.3420_3421insGACTACTT	NP_009231.2:p.His1141AspfsTer17
NR_027676.2:n.3597_3598insGACTACTT