Canonical Allele Identifier: CA2695226117

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051085_43051086delinsAA , CM000679.2:g.43051085_43051086delinsAA	GRCh38
NC_000017.10:g.41203102_41203103delinsAA , CM000679.1:g.41203102_41203103delinsAA	GRCh37
NC_000017.9:g.38456628_38456629delinsAA	NCBI36
NG_005905.2:g.166898_166899delinsTT , LRG_292:g.166898_166899delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5306_5307delinsTT	ENSP00000417241.2:p.Gly1769Val
ENST00000470026.6:c.5309_5310delinsTT	ENSP00000419274.2:p.Gly1770Val
ENST00000473961.6:c.5183_5184delinsTT	ENSP00000420201.2:p.Gly1728Val
ENST00000476777.6:c.5303_5304delinsTT	ENSP00000417554.2:p.Gly1768Val
ENST00000477152.6:c.5231_5232delinsTT	ENSP00000419988.2:p.Gly1744Val
ENST00000478531.6:c.1997_1998delinsTT	ENSP00000420412.2:p.Gly666Val
ENST00000489037.2:c.5231_5232delinsTT	ENSP00000420781.2:p.Gly1744Val
ENST00000493919.6:c.1859_1860delinsTT	ENSP00000418819.2:p.Gly620Val
ENST00000494123.6:c.5309_5310delinsTT	ENSP00000419103.2:p.Gly1770Val
ENST00000497488.2:c.4421_4422delinsTT	ENSP00000418986.2:p.Gly1474Val
ENST00000618469.2:c.5309_5310delinsTT	ENSP00000478114.2:p.Gly1770Val
ENST00000634433.2:c.5186_5187delinsTT	ENSP00000489431.2:p.Gly1729Val
ENST00000644379.2:c.5375_5376delinsTT	ENSP00000496570.2:p.Gly1792Val
ENST00000644555.2:c.1859_1860delinsTT	ENSP00000494614.2:p.Gly620Val
ENST00000652672.2:c.5168_5169delinsTT	ENSP00000498906.2:p.Gly1723Val
ENST00000484087.6:c.1871_1872delinsTT	ENSP00000419481.2:p.Gly624Val
ENST00000357654.9:c.5309_5310delinsTT MANE Select	ENSP00000350283.3:p.Gly1770Val
ENST00000471181.7:c.5372_5373delinsTT	ENSP00000418960.2:p.Gly1791Val
ENST00000644379.1:c.1696_1697delinsTT
ENST00000352993.7:c.1883_1884delinsTT	ENSP00000312236.5:p.Gly628Val
ENST00000357654.7:c.5309_5310delinsTT	ENSP00000350283.3:p.Gly1770Val
ENST00000461221.5:c.*5092_*5093delinsTT	ENSP00000418548.1:n.*5092_*5093delinsTT
ENST00000468300.5:c.1997_1998delinsTT	ENSP00000417148.1:p.Gly666Val
ENST00000471181.6:c.5372_5373delinsTT	ENSP00000418960.2:p.Gly1791Val
ENST00000491747.6:c.1997_1998delinsTT	ENSP00000420705.2:p.Gly666Val
ENST00000493795.5:c.5168_5169delinsTT	ENSP00000418775.1:p.Gly1723Val
ENST00000586385.5:c.239_240delinsTT	ENSP00000465818.1:p.Gly80Val
ENST00000591534.5:c.782_783delinsTT	ENSP00000467329.1:p.Gly261Val
ENST00000591849.5:c.-98-896_-98-895delinsTT	ENSP00000465347.1:n.-98-896_-98-895delinsTT
NM_007294.3:c.5309_5310delinsTT , LRG_292t1:c.5309_5310delinsTT	NP_009225.1:p.Gly1770Val
NM_007297.3:c.5168_5169delinsTT	NP_009228.2:p.Gly1723Val
NM_007298.3:c.1997_1998delinsTT	NP_009229.2:p.Gly666Val
NM_007299.3:c.1997_1998delinsTT	NP_009230.2:p.Gly666Val
NM_007300.3:c.5372_5373delinsTT	NP_009231.2:p.Gly1791Val
NR_027676.1:n.5445_5446delinsTT
NM_007294.4:c.5309_5310delinsTT MANE Select	NP_009225.1:p.Gly1770Val
NM_007297.4:c.5168_5169delinsTT	NP_009228.2:p.Gly1723Val
NM_007299.4:c.1997_1998delinsTT	NP_009230.2:p.Gly666Val
NM_007300.4:c.5372_5373delinsTT	NP_009231.2:p.Gly1791Val
NR_027676.2:n.5486_5487delinsTT