Canonical Allele Identifier: CA658823975

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548200
• ClinVar RCV Id: RCV000661025
• dbSNP Id: rs1555587980
• MyVariant Identifiers: chr17:g.41244238_41244239insG (hg19) ; chr17:g.43092221_43092222insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092221_43092222insG , CM000679.2:g.43092221_43092222insG	GRCh38
NC_000017.10:g.41244238_41244239insG , CM000679.1:g.41244238_41244239insG	GRCh37
NC_000017.9:g.38497764_38497765insG	NCBI36
NG_005905.2:g.125762_125763insC , LRG_292:g.125762_125763insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3373_3374insC
ENST00000461574.2:c.3309_3310insC	ENSP00000417241.2:p.Lys1104GlnfsTer4
ENST00000470026.6:c.3309_3310insC	ENSP00000419274.2:p.Lys1104GlnfsTer4
ENST00000473961.6:c.3183_3184insC	ENSP00000420201.2:p.Lys1062GlnfsTer4
ENST00000476777.6:c.3306_3307insC	ENSP00000417554.2:p.Lys1103GlnfsTer4
ENST00000477152.6:c.3231_3232insC	ENSP00000419988.2:p.Lys1078GlnfsTer4
ENST00000478531.6:c.785-1190_785-1189insC	ENSP00000420412.2:n.785-1190_785-1189insC
ENST00000489037.2:c.3231_3232insC	ENSP00000420781.2:p.Lys1078GlnfsTer4
ENST00000493919.6:c.647-1190_647-1189insC	ENSP00000418819.2:n.647-1190_647-1189insC
ENST00000494123.6:c.3309_3310insC	ENSP00000419103.2:p.Lys1104GlnfsTer4
ENST00000497488.2:c.2421_2422insC	ENSP00000418986.2:p.Lys808GlnfsTer4
ENST00000618469.2:c.3309_3310insC	ENSP00000478114.2:p.Lys1104GlnfsTer4
ENST00000634433.2:c.3186_3187insC	ENSP00000489431.2:p.Lys1063GlnfsTer4
ENST00000644379.2:c.3309_3310insC	ENSP00000496570.2:p.Lys1104GlnfsTer4
ENST00000644555.2:c.647-1190_647-1189insC	ENSP00000494614.2:n.647-1190_647-1189insC
ENST00000652672.2:c.3168_3169insC	ENSP00000498906.2:p.Lys1057GlnfsTer4
ENST00000484087.6:c.665-1190_665-1189insC	ENSP00000419481.2:n.665-1190_665-1189insC
ENST00000700182.1:c.707-1190_707-1189insC	ENSP00000514849.1:n.707-1190_707-1189insC
ENST00000357654.9:c.3309_3310insC MANE Select	ENSP00000350283.3:p.Lys1104GlnfsTer4
ENST00000471181.7:c.3309_3310insC	ENSP00000418960.2:p.Lys1104GlnfsTer4
ENST00000352993.7:c.671-1190_671-1189insC	ENSP00000312236.5:n.671-1190_671-1189insC
ENST00000354071.7:c.3309_3310insC	ENSP00000326002.7:p.Lys1104GlnfsTer4
ENST00000357654.7:c.3309_3310insC	ENSP00000350283.3:p.Lys1104GlnfsTer4
ENST00000461221.5:c.*3092_*3093insC	ENSP00000418548.1:n.*3092_*3093insC
ENST00000468300.5:c.788-1190_788-1189insC	ENSP00000417148.1:n.788-1190_788-1189insC
ENST00000471181.6:c.3309_3310insC	ENSP00000418960.2:p.Lys1104GlnfsTer4
ENST00000478531.5:c.785-1190_785-1189insC	ENSP00000420412.1:n.785-1190_785-1189insC
ENST00000484087.5:c.410-1190_410-1189insC	ENSP00000419481.1:n.410-1190_410-1189insC
ENST00000487825.5:c.413-1190_413-1189insC	ENSP00000418212.1:n.413-1190_413-1189insC
ENST00000491747.6:c.788-1190_788-1189insC	ENSP00000420705.2:n.788-1190_788-1189insC
ENST00000493795.5:c.3168_3169insC	ENSP00000418775.1:p.Lys1057GlnfsTer4
ENST00000493919.5:c.647-1190_647-1189insC	ENSP00000418819.1:n.647-1190_647-1189insC
ENST00000586385.5:c.5-28271_5-28270insC	ENSP00000465818.1:n.5-28271_5-28270insC
ENST00000591534.5:c.-43-17701_-43-17700insC	ENSP00000467329.1:n.-43-17701_-43-17700insC
ENST00000591849.5:c.-99+33049_-99+33050insC	ENSP00000465347.1:n.-99+33049_-99+33050insC
NM_007294.3:c.3309_3310insC , LRG_292t1:c.3309_3310insC	NP_009225.1:p.Lys1104GlnfsTer4
NM_007297.3:c.3168_3169insC	NP_009228.2:p.Lys1057GlnfsTer4
NM_007298.3:c.788-1190_788-1189insC	NP_009229.2:n.788-1190_788-1189insC
NM_007299.3:c.788-1190_788-1189insC	NP_009230.2:n.788-1190_788-1189insC
NM_007300.3:c.3309_3310insC	NP_009231.2:p.Lys1104GlnfsTer4
NR_027676.1:n.3445_3446insC
NM_007294.4:c.3309_3310insC MANE Select	NP_009225.1:p.Lys1104GlnfsTer4
NM_007297.4:c.3168_3169insC	NP_009228.2:p.Lys1057GlnfsTer4
NM_007299.4:c.788-1190_788-1189insC	NP_009230.2:n.788-1190_788-1189insC
NM_007300.4:c.3309_3310insC	NP_009231.2:p.Lys1104GlnfsTer4
NR_027676.2:n.3486_3487insC