Canonical Allele Identifier: CA2260766366

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057055_43057060delinsTCTGTC , CM000679.2:g.43057055_43057060delinsTCTGTC	GRCh38
NC_000017.10:g.41209072_41209077delinsTCTGTC , CM000679.1:g.41209072_41209077delinsTCTGTC	GRCh37
NC_000017.9:g.38462598_38462603delinsTCTGTC	NCBI36
NG_005905.2:g.160924_160929delinsGACAGA , LRG_292:g.160924_160929delinsGACAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5266_5271delinsGACAGA	ENSP00000417241.2:p.Asp1756=
ENST00000470026.6:c.5269_5274delinsGACAGA	ENSP00000419274.2:p.Asp1757=
ENST00000473961.6:c.5143_5148delinsGACAGA	ENSP00000420201.2:p.Asp1715=
ENST00000476777.6:c.5263_5268delinsGACAGA	ENSP00000417554.2:p.Asp1755=
ENST00000477152.6:c.5191_5196delinsGACAGA	ENSP00000419988.2:p.Asp1731=
ENST00000478531.6:c.1957_1962delinsGACAGA	ENSP00000420412.2:p.Asp653=
ENST00000489037.2:c.5191_5196delinsGACAGA	ENSP00000420781.2:p.Asp1731=
ENST00000493919.6:c.1819_1824delinsGACAGA	ENSP00000418819.2:p.Asp607=
ENST00000494123.6:c.5269_5274delinsGACAGA	ENSP00000419103.2:p.Asp1757=
ENST00000497488.2:c.4381_4386delinsGACAGA	ENSP00000418986.2:p.Asp1461=
ENST00000618469.2:c.5269_5274delinsGACAGA	ENSP00000478114.2:p.Asp1757=
ENST00000634433.2:c.5146_5151delinsGACAGA	ENSP00000489431.2:p.Asp1716=
ENST00000644379.2:c.5335_5340delinsGACAGA	ENSP00000496570.2:p.Asp1779=
ENST00000644555.2:c.1819_1824delinsGACAGA	ENSP00000494614.2:p.Asp607=
ENST00000652672.2:c.5128_5133delinsGACAGA	ENSP00000498906.2:p.Asp1710=
ENST00000484087.6:c.1831_1836delinsGACAGA	ENSP00000419481.2:p.Asp611=
ENST00000357654.9:c.5269_5274delinsGACAGA MANE Select	ENSP00000350283.3:p.Asp1757=
ENST00000471181.7:c.5332_5337delinsGACAGA	ENSP00000418960.2:p.Asp1778=
ENST00000644379.1:c.1656_1661delinsGACAGA
ENST00000352993.7:c.1843_1848delinsGACAGA	ENSP00000312236.5:p.Asp615=
ENST00000357654.7:c.5269_5274delinsGACAGA	ENSP00000350283.3:p.Asp1757=
ENST00000461221.5:c.*5052_*5057delinsGACAGA	ENSP00000418548.1:n.*5052_*5057delinsGACAGA
ENST00000468300.5:c.1957_1962delinsGACAGA	ENSP00000417148.1:p.Asp653=
ENST00000471181.6:c.5332_5337delinsGACAGA	ENSP00000418960.2:p.Asp1778=
ENST00000491747.6:c.1957_1962delinsGACAGA	ENSP00000420705.2:p.Asp653=
ENST00000493795.5:c.5128_5133delinsGACAGA	ENSP00000418775.1:p.Asp1710=
ENST00000586385.5:c.199_204delinsGACAGA	ENSP00000465818.1:p.Asp67=
ENST00000591534.5:c.742_747delinsGACAGA	ENSP00000467329.1:p.Asp248=
ENST00000591849.5:c.-98-6870_-98-6865delinsGACAGA	ENSP00000465347.1:n.-98-6870_-98-6865delinsGACAGA
NM_007294.3:c.5269_5274delinsGACAGA , LRG_292t1:c.5269_5274delinsGACAGA	NP_009225.1:p.Asp1757=
NM_007297.3:c.5128_5133delinsGACAGA	NP_009228.2:p.Asp1710=
NM_007298.3:c.1957_1962delinsGACAGA	NP_009229.2:p.Asp653=
NM_007299.3:c.1957_1962delinsGACAGA	NP_009230.2:p.Asp653=
NM_007300.3:c.5332_5337delinsGACAGA	NP_009231.2:p.Asp1778=
NR_027676.1:n.5405_5410delinsGACAGA
NM_007294.4:c.5269_5274delinsGACAGA MANE Select	NP_009225.1:p.Asp1757=
NM_007297.4:c.5128_5133delinsGACAGA	NP_009228.2:p.Asp1710=
NM_007299.4:c.1957_1962delinsGACAGA	NP_009230.2:p.Asp653=
NM_007300.4:c.5332_5337delinsGACAGA	NP_009231.2:p.Asp1778=
NR_027676.2:n.5446_5451delinsGACAGA