Canonical Allele Identifier: CA2260761999

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047669_43047670delinsGC , CM000679.2:g.43047669_43047670delinsGC	GRCh38
NC_000017.10:g.41199686_41199687delinsGC , CM000679.1:g.41199686_41199687delinsGC	GRCh37
NC_000017.9:g.38453212_38453213delinsGC	NCBI36
NG_005905.2:g.170314_170315delinsGC , LRG_292:g.170314_170315delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5437_5438delinsGC	ENSP00000417241.2:p.Ala1813=
ENST00000470026.6:c.5440_5441delinsGC	ENSP00000419274.2:p.Ala1814=
ENST00000473961.6:c.5314_5315delinsGC	ENSP00000420201.2:p.Ala1772=
ENST00000476777.6:c.5434_5435delinsGC	ENSP00000417554.2:p.Ala1812=
ENST00000477152.6:c.5362_5363delinsGC	ENSP00000419988.2:p.Ala1788=
ENST00000478531.6:c.2128_2129delinsGC	ENSP00000420412.2:p.Ala710=
ENST00000489037.2:c.5362_5363delinsGC	ENSP00000420781.2:p.Ala1788=
ENST00000493919.6:c.1990_1991delinsGC	ENSP00000418819.2:p.Ala664=
ENST00000494123.6:c.5440_5441delinsGC	ENSP00000419103.2:p.Ala1814=
ENST00000497488.2:c.4552_4553delinsGC	ENSP00000418986.2:p.Ala1518=
ENST00000618469.2:c.5440_5441delinsGC	ENSP00000478114.2:p.Ala1814=
ENST00000634433.2:c.5317_5318delinsGC	ENSP00000489431.2:p.Ala1773=
ENST00000644379.2:c.5506_5507delinsGC	ENSP00000496570.2:p.Ala1836=
ENST00000644555.2:c.1990_1991delinsGC	ENSP00000494614.2:p.Ala664=
ENST00000652672.2:c.5299_5300delinsGC	ENSP00000498906.2:p.Ala1767=
ENST00000484087.6:c.2002_2003delinsGC	ENSP00000419481.2:p.Ala668=
ENST00000700081.1:n.1323_1324delinsGC
ENST00000700082.1:n.804_805delinsGC
ENST00000357654.9:c.5440_5441delinsGC MANE Select	ENSP00000350283.3:p.Ala1814=
ENST00000471181.7:c.5503_5504delinsGC	ENSP00000418960.2:p.Ala1835=
ENST00000644379.1:c.1827_1828delinsGC
ENST00000352993.7:c.2014_2015delinsGC	ENSP00000312236.5:p.Ala672=
ENST00000357654.7:c.5440_5441delinsGC	ENSP00000350283.3:p.Ala1814=
ENST00000461221.5:c.*5223_*5224delinsGC	ENSP00000418548.1:n.*5223_*5224delinsGC
ENST00000468300.5:c.2054_2055delinsGC	ENSP00000417148.1:p.Cys685=
ENST00000471181.6:c.5503_5504delinsGC	ENSP00000418960.2:p.Ala1835=
ENST00000491747.6:c.2128_2129delinsGC	ENSP00000420705.2:p.Ala710=
ENST00000493795.5:c.5299_5300delinsGC	ENSP00000418775.1:p.Ala1767=
ENST00000586385.5:c.370_371delinsGC	ENSP00000465818.1:p.Ala124=
ENST00000591534.5:c.913_914delinsGC	ENSP00000467329.1:p.Ala305=
ENST00000591849.5:c.139_140delinsGC	ENSP00000465347.1:p.Ala47=
NM_007294.3:c.5440_5441delinsGC , LRG_292t1:c.5440_5441delinsGC	NP_009225.1:p.Ala1814=
NM_007297.3:c.5299_5300delinsGC	NP_009228.2:p.Ala1767=
NM_007298.3:c.2128_2129delinsGC	NP_009229.2:p.Ala710=
NM_007299.3:c.2054_2055delinsGC	NP_009230.2:p.Cys685=
NM_007300.3:c.5503_5504delinsGC	NP_009231.2:p.Ala1835=
NR_027676.1:n.5576_5577delinsGC
NM_007294.4:c.5440_5441delinsGC MANE Select	NP_009225.1:p.Ala1814=
NM_007297.4:c.5299_5300delinsGC	NP_009228.2:p.Ala1767=
NM_007299.4:c.2054_2055delinsGC	NP_009230.2:p.Cys685=
NM_007300.4:c.5503_5504delinsGC	NP_009231.2:p.Ala1835=
NR_027676.2:n.5617_5618delinsGC