Canonical Allele Identifier: CA2260762929

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049438_43049440delinsGTC , CM000679.2:g.43049438_43049440delinsGTC	GRCh38
NC_000017.10:g.41201455_41201457delinsGTC , CM000679.1:g.41201455_41201457delinsGTC	GRCh37
NC_000017.9:g.38454981_38454983delinsGTC	NCBI36
NG_005905.2:g.168544_168546delinsGAC , LRG_292:g.168544_168546delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5330-246_5330-244delinsGAC	ENSP00000417241.2:n.5330-246_5330-244delinsGAC
ENST00000470026.6:c.5333-246_5333-244delinsGAC	ENSP00000419274.2:n.5333-246_5333-244delinsGAC
ENST00000473961.6:c.5207-246_5207-244delinsGAC	ENSP00000420201.2:n.5207-246_5207-244delinsGAC
ENST00000476777.6:c.5327-246_5327-244delinsGAC	ENSP00000417554.2:n.5327-246_5327-244delinsGAC
ENST00000477152.6:c.5255-246_5255-244delinsGAC	ENSP00000419988.2:n.5255-246_5255-244delinsGAC
ENST00000478531.6:c.2021-246_2021-244delinsGAC	ENSP00000420412.2:n.2021-246_2021-244delinsGAC
ENST00000489037.2:c.5255-246_5255-244delinsGAC	ENSP00000420781.2:n.5255-246_5255-244delinsGAC
ENST00000493919.6:c.1883-246_1883-244delinsGAC	ENSP00000418819.2:n.1883-246_1883-244delinsGAC
ENST00000494123.6:c.5333-246_5333-244delinsGAC	ENSP00000419103.2:n.5333-246_5333-244delinsGAC
ENST00000497488.2:c.4445-246_4445-244delinsGAC	ENSP00000418986.2:n.4445-246_4445-244delinsGAC
ENST00000618469.2:c.5333-246_5333-244delinsGAC	ENSP00000478114.2:n.5333-246_5333-244delinsGAC
ENST00000634433.2:c.5210-246_5210-244delinsGAC	ENSP00000489431.2:n.5210-246_5210-244delinsGAC
ENST00000644379.2:c.5399-246_5399-244delinsGAC	ENSP00000496570.2:n.5399-246_5399-244delinsGAC
ENST00000644555.2:c.1883-246_1883-244delinsGAC	ENSP00000494614.2:n.1883-246_1883-244delinsGAC
ENST00000652672.2:c.5192-246_5192-244delinsGAC	ENSP00000498906.2:n.5192-246_5192-244delinsGAC
ENST00000484087.6:c.1895-246_1895-244delinsGAC	ENSP00000419481.2:n.1895-246_1895-244delinsGAC
ENST00000700081.1:n.970_972delinsGAC
ENST00000357654.9:c.5333-246_5333-244delinsGAC MANE Select	ENSP00000350283.3:n.5333-246_5333-244delinsGAC
ENST00000471181.7:c.5396-246_5396-244delinsGAC	ENSP00000418960.2:n.5396-246_5396-244delinsGAC
ENST00000644379.1:c.1720-246_1720-244delinsGAC
ENST00000352993.7:c.1907-246_1907-244delinsGAC	ENSP00000312236.5:n.1907-246_1907-244delinsGAC
ENST00000357654.7:c.5333-246_5333-244delinsGAC	ENSP00000350283.3:n.5333-246_5333-244delinsGAC
ENST00000461221.5:c.*5116-246_*5116-244delinsGAC	ENSP00000418548.1:n.*5116-246_*5116-244delinsGAC
ENST00000468300.5:c.2020+1623_2020+1625delinsGAC	ENSP00000417148.1:n.2020+1623_2020+1625delinsGAC
ENST00000471181.6:c.5396-246_5396-244delinsGAC	ENSP00000418960.2:n.5396-246_5396-244delinsGAC
ENST00000491747.6:c.2021-246_2021-244delinsGAC	ENSP00000420705.2:n.2021-246_2021-244delinsGAC
ENST00000493795.5:c.5192-246_5192-244delinsGAC	ENSP00000418775.1:n.5192-246_5192-244delinsGAC
ENST00000586385.5:c.263-246_263-244delinsGAC	ENSP00000465818.1:n.263-246_263-244delinsGAC
ENST00000591534.5:c.806-246_806-244delinsGAC	ENSP00000467329.1:n.806-246_806-244delinsGAC
ENST00000591849.5:c.32-246_32-244delinsGAC	ENSP00000465347.1:n.32-246_32-244delinsGAC
NM_007294.3:c.5333-246_5333-244delinsGAC , LRG_292t1:c.5333-246_5333-244delinsGAC	NP_009225.1:n.5333-246_5333-244delinsGAC
NM_007297.3:c.5192-246_5192-244delinsGAC	NP_009228.2:n.5192-246_5192-244delinsGAC
NM_007298.3:c.2021-246_2021-244delinsGAC	NP_009229.2:n.2021-246_2021-244delinsGAC
NM_007299.3:c.2020+1623_2020+1625delinsGAC	NP_009230.2:n.2020+1623_2020+1625delinsGAC
NM_007300.3:c.5396-246_5396-244delinsGAC	NP_009231.2:n.5396-246_5396-244delinsGAC
NR_027676.1:n.5469-246_5469-244delinsGAC
NM_007294.4:c.5333-246_5333-244delinsGAC MANE Select	NP_009225.1:n.5333-246_5333-244delinsGAC
NM_007297.4:c.5192-246_5192-244delinsGAC	NP_009228.2:n.5192-246_5192-244delinsGAC
NM_007299.4:c.2020+1623_2020+1625delinsGAC	NP_009230.2:n.2020+1623_2020+1625delinsGAC
NM_007300.4:c.5396-246_5396-244delinsGAC	NP_009231.2:n.5396-246_5396-244delinsGAC
NR_027676.2:n.5510-246_5510-244delinsGAC