Canonical Allele Identifier: CA2260761058

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045724_43045727delinsTCCT , CM000679.2:g.43045724_43045727delinsTCCT	GRCh38
NC_000017.10:g.41197741_41197744delinsTCCT , CM000679.1:g.41197741_41197744delinsTCCT	GRCh37
NC_000017.9:g.38451267_38451270delinsTCCT	NCBI36
NG_005905.2:g.172257_172260delinsAGGA , LRG_292:g.172257_172260delinsAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5540_5543delinsAGGA	ENSP00000417241.2:p.Gln1847=
ENST00000470026.6:c.5543_5546delinsAGGA	ENSP00000419274.2:p.Gln1848=
ENST00000473961.6:c.5417_5420delinsAGGA	ENSP00000420201.2:p.Gln1806=
ENST00000476777.6:c.5537_5540delinsAGGA	ENSP00000417554.2:p.Gln1846=
ENST00000477152.6:c.5465_5468delinsAGGA	ENSP00000419988.2:p.Gln1822=
ENST00000478531.6:c.2231_2234delinsAGGA	ENSP00000420412.2:p.Gln744=
ENST00000489037.2:c.5465_5468delinsAGGA	ENSP00000420781.2:p.Gln1822=
ENST00000493919.6:c.2093_2096delinsAGGA	ENSP00000418819.2:p.Gln698=
ENST00000494123.6:c.5543_5546delinsAGGA	ENSP00000419103.2:p.Gln1848=
ENST00000497488.2:c.4655_4658delinsAGGA	ENSP00000418986.2:p.Gln1552=
ENST00000618469.2:c.5543_5546delinsAGGA	ENSP00000478114.2:p.Gln1848=
ENST00000634433.2:c.5420_5423delinsAGGA	ENSP00000489431.2:p.Gln1807=
ENST00000644379.2:c.5609_5612delinsAGGA	ENSP00000496570.2:p.Gln1870=
ENST00000644555.2:c.2093_2096delinsAGGA	ENSP00000494614.2:p.Gln698=
ENST00000652672.2:c.5402_5405delinsAGGA	ENSP00000498906.2:p.Gln1801=
ENST00000484087.6:c.2105_2108delinsAGGA	ENSP00000419481.2:p.Gln702=
ENST00000700081.1:n.1426_1429delinsAGGA
ENST00000700082.1:n.907_910delinsAGGA
ENST00000357654.9:c.5543_5546delinsAGGA MANE Select	ENSP00000350283.3:p.Gln1848=
ENST00000471181.7:c.5606_5609delinsAGGA	ENSP00000418960.2:p.Gln1869=
ENST00000644379.1:c.1930_1933delinsAGGA
ENST00000352993.7:c.2117_2120delinsAGGA	ENSP00000312236.5:p.Gln706=
ENST00000357654.7:c.5543_5546delinsAGGA	ENSP00000350283.3:p.Gln1848=
ENST00000461221.5:c.*5326_*5329delinsAGGA	ENSP00000418548.1:n.*5326_*5329delinsAGGA
ENST00000468300.5:c.*57_*60delinsAGGA	ENSP00000417148.1:n.*57_*60delinsAGGA
ENST00000471181.6:c.5606_5609delinsAGGA	ENSP00000418960.2:p.Gln1869=
ENST00000491747.6:c.2231_2234delinsAGGA	ENSP00000420705.2:p.Gln744=
ENST00000493795.5:c.5402_5405delinsAGGA	ENSP00000418775.1:p.Gln1801=
ENST00000586385.5:c.473_476delinsAGGA	ENSP00000465818.1:p.Gln158=
ENST00000591534.5:c.1016_1019delinsAGGA	ENSP00000467329.1:p.Gln339=
ENST00000591849.5:c.242_245delinsAGGA	ENSP00000465347.1:p.Gln81=
NM_007294.3:c.5543_5546delinsAGGA , LRG_292t1:c.5543_5546delinsAGGA	NP_009225.1:p.Gln1848=
NM_007297.3:c.5402_5405delinsAGGA	NP_009228.2:p.Gln1801=
NM_007298.3:c.2231_2234delinsAGGA	NP_009229.2:p.Gln744=
NM_007299.3:c.*57_*60delinsAGGA	NP_009230.2:n.*57_*60delinsAGGA
NM_007300.3:c.5606_5609delinsAGGA	NP_009231.2:p.Gln1869=
NR_027676.1:n.5679_5682delinsAGGA
NM_007294.4:c.5543_5546delinsAGGA MANE Select	NP_009225.1:p.Gln1848=
NM_007297.4:c.5402_5405delinsAGGA	NP_009228.2:p.Gln1801=
NM_007299.4:c.*57_*60delinsAGGA	NP_009230.2:n.*57_*60delinsAGGA
NM_007300.4:c.5606_5609delinsAGGA	NP_009231.2:p.Gln1869=
NR_027676.2:n.5720_5723delinsAGGA