Canonical Allele Identifier: CA2695225965

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092674_43092675insC , CM000679.2:g.43092674_43092675insC	GRCh38
NC_000017.10:g.41244691_41244692insC , CM000679.1:g.41244691_41244692insC	GRCh37
NC_000017.9:g.38498217_38498218insC	NCBI36
NG_005905.2:g.125309_125310insG , LRG_292:g.125309_125310insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2920_2921insG
ENST00000461574.2:c.2856_2857insG	ENSP00000417241.2:p.Cys953ValfsTer18
ENST00000470026.6:c.2856_2857insG	ENSP00000419274.2:p.Cys953ValfsTer18
ENST00000473961.6:c.2730_2731insG	ENSP00000420201.2:p.Cys911ValfsTer18
ENST00000476777.6:c.2853_2854insG	ENSP00000417554.2:p.Cys952ValfsTer18
ENST00000477152.6:c.2778_2779insG	ENSP00000419988.2:p.Cys927ValfsTer18
ENST00000478531.6:c.785-1643_785-1642insG	ENSP00000420412.2:n.785-1643_785-1642insG...
ENST00000489037.2:c.2778_2779insG	ENSP00000420781.2:p.Cys927ValfsTer18
ENST00000493919.6:c.647-1643_647-1642insG	ENSP00000418819.2:n.647-1643_647-1642insG...
ENST00000494123.6:c.2856_2857insG	ENSP00000419103.2:p.Cys953ValfsTer18
ENST00000497488.2:c.1968_1969insG	ENSP00000418986.2:p.Cys657ValfsTer18
ENST00000618469.2:c.2856_2857insG	ENSP00000478114.2:p.Cys953ValfsTer18
ENST00000634433.2:c.2733_2734insG	ENSP00000489431.2:p.Cys912ValfsTer18
ENST00000644379.2:c.2856_2857insG	ENSP00000496570.2:p.Cys953ValfsTer18
ENST00000644555.2:c.647-1643_647-1642insG	ENSP00000494614.2:n.647-1643_647-1642insG...
ENST00000652672.2:c.2715_2716insG	ENSP00000498906.2:p.Cys906ValfsTer18
ENST00000484087.6:c.665-1643_665-1642insG	ENSP00000419481.2:n.665-1643_665-1642insG...
ENST00000700182.1:c.707-1643_707-1642insG	ENSP00000514849.1:n.707-1643_707-1642insG...
ENST00000357654.9:c.2856_2857insG MANE Select	ENSP00000350283.3:p.Cys953ValfsTer18
ENST00000471181.7:c.2856_2857insG	ENSP00000418960.2:p.Cys953ValfsTer18
ENST00000352993.7:c.671-1643_671-1642insG	ENSP00000312236.5:n.671-1643_671-1642insG...
ENST00000354071.7:c.2856_2857insG	ENSP00000326002.7:p.Cys953ValfsTer18
ENST00000357654.7:c.2856_2857insG	ENSP00000350283.3:p.Cys953ValfsTer18
ENST00000461221.5:c.*2639_*2640insG	ENSP00000418548.1:n.*2639_*2640insG
ENST00000468300.5:c.788-1643_788-1642insG	ENSP00000417148.1:n.788-1643_788-1642insG...
ENST00000471181.6:c.2856_2857insG	ENSP00000418960.2:p.Cys953ValfsTer18
ENST00000478531.5:c.785-1643_785-1642insG	ENSP00000420412.1:n.785-1643_785-1642insG...
ENST00000484087.5:c.410-1643_410-1642insG	ENSP00000419481.1:n.410-1643_410-1642insG...
ENST00000487825.5:c.413-1643_413-1642insG	ENSP00000418212.1:n.413-1643_413-1642insG...
ENST00000491747.6:c.788-1643_788-1642insG	ENSP00000420705.2:n.788-1643_788-1642insG...
ENST00000493795.5:c.2715_2716insG	ENSP00000418775.1:p.Cys906ValfsTer18
ENST00000493919.5:c.647-1643_647-1642insG	ENSP00000418819.1:n.647-1643_647-1642insG...
ENST00000586385.5:c.5-28724_5-28723insG	ENSP00000465818.1:n.5-28724_5-28723insG
ENST00000591534.5:c.-43-18154_-43-18153insG	ENSP00000467329.1:n.-43-18154_-43-18153in...
ENST00000591849.5:c.-99+32596_-99+32597insG	ENSP00000465347.1:n.-99+32596_-99+32597in...
NM_007294.3:c.2856_2857insG , LRG_292t1:c.2856_2857insG	NP_009225.1:p.Cys953ValfsTer18
NM_007297.3:c.2715_2716insG	NP_009228.2:p.Cys906ValfsTer18
NM_007298.3:c.788-1643_788-1642insG	NP_009229.2:n.788-1643_788-1642insG
NM_007299.3:c.788-1643_788-1642insG	NP_009230.2:n.788-1643_788-1642insG
NM_007300.3:c.2856_2857insG	NP_009231.2:p.Cys953ValfsTer18
NR_027676.1:n.2992_2993insG
NM_007294.4:c.2856_2857insG MANE Select	NP_009225.1:p.Cys953ValfsTer18
NM_007297.4:c.2715_2716insG	NP_009228.2:p.Cys906ValfsTer18
NM_007299.4:c.788-1643_788-1642insG	NP_009230.2:n.788-1643_788-1642insG
NM_007300.4:c.2856_2857insG	NP_009231.2:p.Cys953ValfsTer18
NR_027676.2:n.3033_3034insG