Canonical Allele Identifier: CA2695226108
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43057030_43057031insC , CM000679.2:g.43057030_43057031insC GRCh38
NC_000017.10:g.41209047_41209048insC , CM000679.1:g.41209047_41209048insC GRCh37
NC_000017.9:g.38462573_38462574insC NCBI36
NG_005905.2:g.160953_160954insG , LRG_292:g.160953_160954insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5274+21_5274+22insG ENSP00000417241.2:n.5274+21_5274+22insG
ENST00000470026.6:c.5277+21_5277+22insG ENSP00000419274.2:n.5277+21_5277+22insG
ENST00000473961.6:c.5151+21_5151+22insG ENSP00000420201.2:n.5151+21_5151+22insG
ENST00000476777.6:c.5271+21_5271+22insG ENSP00000417554.2:n.5271+21_5271+22insG
ENST00000477152.6:c.5199+21_5199+22insG ENSP00000419988.2:n.5199+21_5199+22insG
ENST00000478531.6:c.1965+21_1965+22insG ENSP00000420412.2:n.1965+21_1965+22insG
ENST00000489037.2:c.5199+21_5199+22insG ENSP00000420781.2:n.5199+21_5199+22insG
ENST00000493919.6:c.1827+21_1827+22insG ENSP00000418819.2:n.1827+21_1827+22insG
ENST00000494123.6:c.5277+21_5277+22insG ENSP00000419103.2:n.5277+21_5277+22insG
ENST00000497488.2:c.4389+21_4389+22insG ENSP00000418986.2:n.4389+21_4389+22insG
ENST00000618469.2:c.5277+21_5277+22insG ENSP00000478114.2:n.5277+21_5277+22insG
ENST00000634433.2:c.5154+21_5154+22insG ENSP00000489431.2:n.5154+21_5154+22insG
ENST00000644379.2:c.5343+21_5343+22insG ENSP00000496570.2:n.5343+21_5343+22insG
ENST00000644555.2:c.1827+21_1827+22insG ENSP00000494614.2:n.1827+21_1827+22insG
ENST00000652672.2:c.5136+21_5136+22insG ENSP00000498906.2:n.5136+21_5136+22insG
ENST00000484087.6:c.1839+21_1839+22insG ENSP00000419481.2:n.1839+21_1839+22insG
ENST00000357654.9:c.5277+21_5277+22insG MANE Select ENSP00000350283.3:n.5277+21_5277+22insG
ENST00000471181.7:c.5340+21_5340+22insG ENSP00000418960.2:n.5340+21_5340+22insG
ENST00000644379.1:c.1664+21_1664+22insG
ENST00000352993.7:c.1851+21_1851+22insG ENSP00000312236.5:n.1851+21_1851+22insG
ENST00000357654.7:c.5277+21_5277+22insG ENSP00000350283.3:n.5277+21_5277+22insG
ENST00000461221.5:c.*5060+21_*5060+22insG ENSP00000418548.1:n.*5060+21_*5060+22insG
ENST00000468300.5:c.1965+21_1965+22insG ENSP00000417148.1:n.1965+21_1965+22insG
ENST00000471181.6:c.5340+21_5340+22insG ENSP00000418960.2:n.5340+21_5340+22insG
ENST00000491747.6:c.1965+21_1965+22insG ENSP00000420705.2:n.1965+21_1965+22insG
ENST00000493795.5:c.5136+21_5136+22insG ENSP00000418775.1:n.5136+21_5136+22insG
ENST00000586385.5:c.207+21_207+22insG ENSP00000465818.1:n.207+21_207+22insG
ENST00000591534.5:c.750+21_750+22insG ENSP00000467329.1:n.750+21_750+22insG
ENST00000591849.5:c.-98-6841_-98-6840insG ENSP00000465347.1:n.-98-6841_-98-6840insG
NM_007294.3:c.5277+21_5277+22insG , LRG_292t1:c.5277+21_5277+22insG NP_009225.1:n.5277+21_5277+22insG
NM_007297.3:c.5136+21_5136+22insG NP_009228.2:n.5136+21_5136+22insG
NM_007298.3:c.1965+21_1965+22insG NP_009229.2:n.1965+21_1965+22insG
NM_007299.3:c.1965+21_1965+22insG NP_009230.2:n.1965+21_1965+22insG
NM_007300.3:c.5340+21_5340+22insG NP_009231.2:n.5340+21_5340+22insG
NR_027676.1:n.5413+21_5413+22insG
NM_007294.4:c.5277+21_5277+22insG MANE Select NP_009225.1:n.5277+21_5277+22insG
NM_007297.4:c.5136+21_5136+22insG NP_009228.2:n.5136+21_5136+22insG
NM_007299.4:c.1965+21_1965+22insG NP_009230.2:n.1965+21_1965+22insG
NM_007300.4:c.5340+21_5340+22insG NP_009231.2:n.5340+21_5340+22insG
NR_027676.2:n.5454+21_5454+22insG