Canonical Allele Identifier: CA2260783100

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092575_43092576delinsTG , CM000679.2:g.43092575_43092576delinsTG	GRCh38
NC_000017.10:g.41244592_41244593delinsTG , CM000679.1:g.41244592_41244593delinsTG	GRCh37
NC_000017.9:g.38498118_38498119delinsTG	NCBI36
NG_005905.2:g.125408_125409delinsCA , LRG_292:g.125408_125409delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3019_3020delinsCA
ENST00000461574.2:c.2955_2956delinsCA	ENSP00000417241.2:p.Pro985=
ENST00000470026.6:c.2955_2956delinsCA	ENSP00000419274.2:p.Pro985=
ENST00000473961.6:c.2829_2830delinsCA	ENSP00000420201.2:p.Pro943=
ENST00000476777.6:c.2952_2953delinsCA	ENSP00000417554.2:p.Pro984=
ENST00000477152.6:c.2877_2878delinsCA	ENSP00000419988.2:p.Pro959=
ENST00000478531.6:c.785-1544_785-1543delinsCA	ENSP00000420412.2:n.785-1544_785-1543delinsCA
ENST00000489037.2:c.2877_2878delinsCA	ENSP00000420781.2:p.Pro959=
ENST00000493919.6:c.647-1544_647-1543delinsCA	ENSP00000418819.2:n.647-1544_647-1543delinsCA
ENST00000494123.6:c.2955_2956delinsCA	ENSP00000419103.2:p.Pro985=
ENST00000497488.2:c.2067_2068delinsCA	ENSP00000418986.2:p.Pro689=
ENST00000618469.2:c.2955_2956delinsCA	ENSP00000478114.2:p.Pro985=
ENST00000634433.2:c.2832_2833delinsCA	ENSP00000489431.2:p.Pro944=
ENST00000644379.2:c.2955_2956delinsCA	ENSP00000496570.2:p.Pro985=
ENST00000644555.2:c.647-1544_647-1543delinsCA	ENSP00000494614.2:n.647-1544_647-1543delinsCA
ENST00000652672.2:c.2814_2815delinsCA	ENSP00000498906.2:p.Pro938=
ENST00000484087.6:c.665-1544_665-1543delinsCA	ENSP00000419481.2:n.665-1544_665-1543delinsCA
ENST00000700182.1:c.707-1544_707-1543delinsCA	ENSP00000514849.1:n.707-1544_707-1543delinsCA
ENST00000357654.9:c.2955_2956delinsCA MANE Select	ENSP00000350283.3:p.Pro985=
ENST00000471181.7:c.2955_2956delinsCA	ENSP00000418960.2:p.Pro985=
ENST00000352993.7:c.671-1544_671-1543delinsCA	ENSP00000312236.5:n.671-1544_671-1543delinsCA
ENST00000354071.7:c.2955_2956delinsCA	ENSP00000326002.7:p.Pro985=
ENST00000357654.7:c.2955_2956delinsCA	ENSP00000350283.3:p.Pro985=
ENST00000461221.5:c.*2738_*2739delinsCA	ENSP00000418548.1:n.*2738_*2739delinsCA
ENST00000468300.5:c.788-1544_788-1543delinsCA	ENSP00000417148.1:n.788-1544_788-1543delinsCA
ENST00000471181.6:c.2955_2956delinsCA	ENSP00000418960.2:p.Pro985=
ENST00000478531.5:c.785-1544_785-1543delinsCA	ENSP00000420412.1:n.785-1544_785-1543delinsCA
ENST00000484087.5:c.410-1544_410-1543delinsCA	ENSP00000419481.1:n.410-1544_410-1543delinsCA
ENST00000487825.5:c.413-1544_413-1543delinsCA	ENSP00000418212.1:n.413-1544_413-1543delinsCA
ENST00000491747.6:c.788-1544_788-1543delinsCA	ENSP00000420705.2:n.788-1544_788-1543delinsCA
ENST00000493795.5:c.2814_2815delinsCA	ENSP00000418775.1:p.Pro938=
ENST00000493919.5:c.647-1544_647-1543delinsCA	ENSP00000418819.1:n.647-1544_647-1543delinsCA
ENST00000586385.5:c.5-28625_5-28624delinsCA	ENSP00000465818.1:n.5-28625_5-28624delinsCA
ENST00000591534.5:c.-43-18055_-43-18054delinsCA	ENSP00000467329.1:n.-43-18055_-43-18054delinsCA
ENST00000591849.5:c.-99+32695_-99+32696delinsCA	ENSP00000465347.1:n.-99+32695_-99+32696delinsCA
NM_007294.3:c.2955_2956delinsCA , LRG_292t1:c.2955_2956delinsCA	NP_009225.1:p.Pro985=
NM_007297.3:c.2814_2815delinsCA	NP_009228.2:p.Pro938=
NM_007298.3:c.788-1544_788-1543delinsCA	NP_009229.2:n.788-1544_788-1543delinsCA
NM_007299.3:c.788-1544_788-1543delinsCA	NP_009230.2:n.788-1544_788-1543delinsCA
NM_007300.3:c.2955_2956delinsCA	NP_009231.2:p.Pro985=
NR_027676.1:n.3091_3092delinsCA
NM_007294.4:c.2955_2956delinsCA MANE Select	NP_009225.1:p.Pro985=
NM_007297.4:c.2814_2815delinsCA	NP_009228.2:p.Pro938=
NM_007299.4:c.788-1544_788-1543delinsCA	NP_009230.2:n.788-1544_788-1543delinsCA
NM_007300.4:c.2955_2956delinsCA	NP_009231.2:p.Pro985=
NR_027676.2:n.3132_3133delinsCA