Canonical Allele Identifier: CA2260761107

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045759_43045784delinsCCACTCTCGGGTCACCACAGGTGCCT , CM000679.2:g.43045759_43045784delinsCCACTCTCGGGTCACCACAGGTGCCT	GRCh38
NC_000017.10:g.41197776_41197801delinsCCACTCTCGGGTCACCACAGGTGCCT , CM000679.1:g.41197776_41197801delinsCCACTCTCGGGTCACCACAGGTGCCT	GRCh37
NC_000017.9:g.38451302_38451327delinsCCACTCTCGGGTCACCACAGGTGCCT	NCBI36
NG_005905.2:g.172200_172225delinsAGGCACCTGTGGTGACCCGAGAGTGG , LRG_292:g.172200_172225delinsAGGCACCTGTGGTGACCCGAGAGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5483_5508delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000417241.2:p.Glu1828=
ENST00000470026.6:c.5486_5511delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000419274.2:p.Glu1829=
ENST00000473961.6:c.5360_5385delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000420201.2:p.Glu1787=
ENST00000476777.6:c.5480_5505delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000417554.2:p.Glu1827=
ENST00000477152.6:c.5408_5433delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000419988.2:p.Glu1803=
ENST00000478531.6:c.2174_2199delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000420412.2:p.Glu725=
ENST00000489037.2:c.5408_5433delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000420781.2:p.Glu1803=
ENST00000493919.6:c.2036_2061delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000418819.2:p.Glu679=
ENST00000494123.6:c.5486_5511delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000419103.2:p.Glu1829=
ENST00000497488.2:c.4598_4623delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000418986.2:p.Glu1533=
ENST00000618469.2:c.5486_5511delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000478114.2:p.Glu1829=
ENST00000634433.2:c.5363_5388delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000489431.2:p.Glu1788=
ENST00000644379.2:c.5552_5577delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000496570.2:p.Glu1851=
ENST00000644555.2:c.2036_2061delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000494614.2:p.Glu679=
ENST00000652672.2:c.5345_5370delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000498906.2:p.Glu1782=
ENST00000484087.6:c.2048_2073delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000419481.2:p.Glu683=
ENST00000700081.1:n.1369_1394delinsAGGCACCTGTGGTGACCCGAGAGTGG
ENST00000700082.1:n.850_875delinsAGGCACCTGTGGTGACCCGAGAGTGG
ENST00000357654.9:c.5486_5511delinsAGGCACCTGTGGTGACCCGAGAGTGG MANE Select	ENSP00000350283.3:p.Glu1829=
ENST00000471181.7:c.5549_5574delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000418960.2:p.Glu1850=
ENST00000644379.1:c.1873_1898delinsAGGCACCTGTGGTGACCCGAGAGTGG
ENST00000352993.7:c.2060_2085delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000312236.5:p.Glu687=
ENST00000357654.7:c.5486_5511delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000350283.3:p.Glu1829=
ENST00000461221.5:c.*5269_*5294delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000418548.1:n.*5269_*5294delinsAGGCACCTGTGGTGACCCGAGAGT...
ENST00000468300.5:c.2100_*25delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000417148.1:n.[c.2100_*25delinsAGGCACCTGTGGTGACCCGAGAGT...
ENST00000471181.6:c.5549_5574delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000418960.2:p.Glu1850=
ENST00000491747.6:c.2174_2199delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000420705.2:p.Glu725=
ENST00000493795.5:c.5345_5370delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000418775.1:p.Glu1782=
ENST00000586385.5:c.416_441delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000465818.1:p.Glu139=
ENST00000591534.5:c.959_984delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000467329.1:p.Glu320=
ENST00000591849.5:c.185_210delinsAGGCACCTGTGGTGACCCGAGAGTGG	ENSP00000465347.1:p.Glu62=
NM_007294.3:c.5486_5511delinsAGGCACCTGTGGTGACCCGAGAGTGG , LRG_292t1:c.5486_5511delinsAGGCACCTGTGGTGACCCGAGAGTGG	NP_009225.1:p.Glu1829=
NM_007297.3:c.5345_5370delinsAGGCACCTGTGGTGACCCGAGAGTGG	NP_009228.2:p.Glu1782=
NM_007298.3:c.2174_2199delinsAGGCACCTGTGGTGACCCGAGAGTGG	NP_009229.2:p.Glu725=
NM_007299.3:c.2100_*25delinsAGGCACCTGTGGTGACCCGAGAGTGG	NP_009230.2:n.[c.2100_*25delinsAGGCACCTGTGGTGACCCGAGAGTGG;Ter...
NM_007300.3:c.5549_5574delinsAGGCACCTGTGGTGACCCGAGAGTGG	NP_009231.2:p.Glu1850=
NR_027676.1:n.5622_5647delinsAGGCACCTGTGGTGACCCGAGAGTGG
NM_007294.4:c.5486_5511delinsAGGCACCTGTGGTGACCCGAGAGTGG MANE Select	NP_009225.1:p.Glu1829=
NM_007297.4:c.5345_5370delinsAGGCACCTGTGGTGACCCGAGAGTGG	NP_009228.2:p.Glu1782=
NM_007299.4:c.2100_*25delinsAGGCACCTGTGGTGACCCGAGAGTGG	NP_009230.2:n.[c.2100_*25delinsAGGCACCTGTGGTGACCCGAGAGTGG;Ter...
NM_007300.4:c.5549_5574delinsAGGCACCTGTGGTGACCCGAGAGTGG	NP_009231.2:p.Glu1850=
NR_027676.2:n.5663_5688delinsAGGCACCTGTGGTGACCCGAGAGTGG