Canonical Allele Identifier: CA2695225951

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092398_43092399insG , CM000679.2:g.43092398_43092399insG	GRCh38
NC_000017.10:g.41244415_41244416insG , CM000679.1:g.41244415_41244416insG	GRCh37
NC_000017.9:g.38497941_38497942insG	NCBI36
NG_005905.2:g.125585_125586insC , LRG_292:g.125585_125586insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3196_3197insC
ENST00000461574.2:c.3132_3133insC	ENSP00000417241.2:p.Asn1045GlnfsTer2
ENST00000470026.6:c.3132_3133insC	ENSP00000419274.2:p.Asn1045GlnfsTer2
ENST00000473961.6:c.3006_3007insC	ENSP00000420201.2:p.Asn1003GlnfsTer2
ENST00000476777.6:c.3129_3130insC	ENSP00000417554.2:p.Asn1044GlnfsTer2
ENST00000477152.6:c.3054_3055insC	ENSP00000419988.2:p.Asn1019GlnfsTer2
ENST00000478531.6:c.785-1367_785-1366insC	ENSP00000420412.2:n.785-1367_785-1366insC
ENST00000489037.2:c.3054_3055insC	ENSP00000420781.2:p.Asn1019GlnfsTer2
ENST00000493919.6:c.647-1367_647-1366insC	ENSP00000418819.2:n.647-1367_647-1366insC
ENST00000494123.6:c.3132_3133insC	ENSP00000419103.2:p.Asn1045GlnfsTer2
ENST00000497488.2:c.2244_2245insC	ENSP00000418986.2:p.Asn749GlnfsTer2
ENST00000618469.2:c.3132_3133insC	ENSP00000478114.2:p.Asn1045GlnfsTer2
ENST00000634433.2:c.3009_3010insC	ENSP00000489431.2:p.Asn1004GlnfsTer2
ENST00000644379.2:c.3132_3133insC	ENSP00000496570.2:p.Asn1045GlnfsTer2
ENST00000644555.2:c.647-1367_647-1366insC	ENSP00000494614.2:n.647-1367_647-1366insC
ENST00000652672.2:c.2991_2992insC	ENSP00000498906.2:p.Asn998GlnfsTer2
ENST00000484087.6:c.665-1367_665-1366insC	ENSP00000419481.2:n.665-1367_665-1366insC
ENST00000700182.1:c.707-1367_707-1366insC	ENSP00000514849.1:n.707-1367_707-1366insC
ENST00000357654.9:c.3132_3133insC MANE Select	ENSP00000350283.3:p.Asn1045GlnfsTer2
ENST00000471181.7:c.3132_3133insC	ENSP00000418960.2:p.Asn1045GlnfsTer2
ENST00000352993.7:c.671-1367_671-1366insC	ENSP00000312236.5:n.671-1367_671-1366insC
ENST00000354071.7:c.3132_3133insC	ENSP00000326002.7:p.Asn1045GlnfsTer2
ENST00000357654.7:c.3132_3133insC	ENSP00000350283.3:p.Asn1045GlnfsTer2
ENST00000461221.5:c.*2915_*2916insC	ENSP00000418548.1:n.*2915_*2916insC
ENST00000468300.5:c.788-1367_788-1366insC	ENSP00000417148.1:n.788-1367_788-1366insC
ENST00000471181.6:c.3132_3133insC	ENSP00000418960.2:p.Asn1045GlnfsTer2
ENST00000478531.5:c.785-1367_785-1366insC	ENSP00000420412.1:n.785-1367_785-1366insC
ENST00000484087.5:c.410-1367_410-1366insC	ENSP00000419481.1:n.410-1367_410-1366insC
ENST00000487825.5:c.413-1367_413-1366insC	ENSP00000418212.1:n.413-1367_413-1366insC
ENST00000491747.6:c.788-1367_788-1366insC	ENSP00000420705.2:n.788-1367_788-1366insC
ENST00000493795.5:c.2991_2992insC	ENSP00000418775.1:p.Asn998GlnfsTer2
ENST00000493919.5:c.647-1367_647-1366insC	ENSP00000418819.1:n.647-1367_647-1366insC
ENST00000586385.5:c.5-28448_5-28447insC	ENSP00000465818.1:n.5-28448_5-28447insC
ENST00000591534.5:c.-43-17878_-43-17877insC	ENSP00000467329.1:n.-43-17878_-43-17877insC
ENST00000591849.5:c.-99+32872_-99+32873insC	ENSP00000465347.1:n.-99+32872_-99+32873insC
NM_007294.3:c.3132_3133insC , LRG_292t1:c.3132_3133insC	NP_009225.1:p.Asn1045GlnfsTer2
NM_007297.3:c.2991_2992insC	NP_009228.2:p.Asn998GlnfsTer2
NM_007298.3:c.788-1367_788-1366insC	NP_009229.2:n.788-1367_788-1366insC
NM_007299.3:c.788-1367_788-1366insC	NP_009230.2:n.788-1367_788-1366insC
NM_007300.3:c.3132_3133insC	NP_009231.2:p.Asn1045GlnfsTer2
NR_027676.1:n.3268_3269insC
NM_007294.4:c.3132_3133insC MANE Select	NP_009225.1:p.Asn1045GlnfsTer2
NM_007297.4:c.2991_2992insC	NP_009228.2:p.Asn998GlnfsTer2
NM_007299.4:c.788-1367_788-1366insC	NP_009230.2:n.788-1367_788-1366insC
NM_007300.4:c.3132_3133insC	NP_009231.2:p.Asn1045GlnfsTer2
NR_027676.2:n.3309_3310insC