Canonical Allele Identifier: CA2260766619
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs2051549683

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43057434_43057435insGT , CM000679.2:g.43057434_43057435insGT GRCh38
NC_000017.10:g.41209451_41209452insGT , CM000679.1:g.41209451_41209452insGT GRCh37
NC_000017.9:g.38462977_38462978insGT NCBI36
NG_005905.2:g.160549_160550insAC , LRG_292:g.160549_160550insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5191-300_5191-299insAC ENSP00000417241.2:n.5191-300_5191-299insAC
ENST00000470026.6:c.5194-300_5194-299insAC ENSP00000419274.2:n.5194-300_5194-299insAC
ENST00000473961.6:c.5068-300_5068-299insAC ENSP00000420201.2:n.5068-300_5068-299insAC
ENST00000476777.6:c.5188-300_5188-299insAC ENSP00000417554.2:n.5188-300_5188-299insAC
ENST00000477152.6:c.5116-300_5116-299insAC ENSP00000419988.2:n.5116-300_5116-299insAC
ENST00000478531.6:c.1882-300_1882-299insAC ENSP00000420412.2:n.1882-300_1882-299insAC
ENST00000489037.2:c.5116-300_5116-299insAC ENSP00000420781.2:n.5116-300_5116-299insAC
ENST00000493919.6:c.1744-300_1744-299insAC ENSP00000418819.2:n.1744-300_1744-299insAC
ENST00000494123.6:c.5194-300_5194-299insAC ENSP00000419103.2:n.5194-300_5194-299insAC
ENST00000497488.2:c.4306-300_4306-299insAC ENSP00000418986.2:n.4306-300_4306-299insAC
ENST00000618469.2:c.5194-300_5194-299insAC ENSP00000478114.2:n.5194-300_5194-299insAC
ENST00000634433.2:c.5071-300_5071-299insAC ENSP00000489431.2:n.5071-300_5071-299insAC
ENST00000644379.2:c.5260-300_5260-299insAC ENSP00000496570.2:n.5260-300_5260-299insAC
ENST00000644555.2:c.1744-300_1744-299insAC ENSP00000494614.2:n.1744-300_1744-299insAC
ENST00000652672.2:c.5053-300_5053-299insAC ENSP00000498906.2:n.5053-300_5053-299insAC
ENST00000484087.6:c.1756-300_1756-299insAC ENSP00000419481.2:n.1756-300_1756-299insAC
ENST00000357654.9:c.5194-300_5194-299insAC MANE Select ENSP00000350283.3:n.5194-300_5194-299insAC
ENST00000471181.7:c.5257-300_5257-299insAC ENSP00000418960.2:n.5257-300_5257-299insAC
ENST00000644379.1:c.1581-300_1581-299insAC
ENST00000352993.7:c.1768-300_1768-299insAC ENSP00000312236.5:n.1768-300_1768-299insAC
ENST00000357654.7:c.5194-300_5194-299insAC ENSP00000350283.3:n.5194-300_5194-299insAC
ENST00000461221.5:c.*4977-300_*4977-299insAC ENSP00000418548.1:n.*4977-300_*4977-299insAC
ENST00000468300.5:c.1882-300_1882-299insAC ENSP00000417148.1:n.1882-300_1882-299insAC
ENST00000471181.6:c.5257-300_5257-299insAC ENSP00000418960.2:n.5257-300_5257-299insAC
ENST00000491747.6:c.1882-300_1882-299insAC ENSP00000420705.2:n.1882-300_1882-299insAC
ENST00000493795.5:c.5053-300_5053-299insAC ENSP00000418775.1:n.5053-300_5053-299insAC
ENST00000586385.5:c.124-300_124-299insAC ENSP00000465818.1:n.124-300_124-299insAC
ENST00000591534.5:c.667-300_667-299insAC ENSP00000467329.1:n.667-300_667-299insAC
ENST00000591849.5:c.-98-7245_-98-7244insAC ENSP00000465347.1:n.-98-7245_-98-7244insAC
NM_007294.3:c.5194-300_5194-299insAC , LRG_292t1:c.5194-300_5194-299insAC NP_009225.1:n.5194-300_5194-299insAC
NM_007297.3:c.5053-300_5053-299insAC NP_009228.2:n.5053-300_5053-299insAC
NM_007298.3:c.1882-300_1882-299insAC NP_009229.2:n.1882-300_1882-299insAC
NM_007299.3:c.1882-300_1882-299insAC NP_009230.2:n.1882-300_1882-299insAC
NM_007300.3:c.5257-300_5257-299insAC NP_009231.2:n.5257-300_5257-299insAC
NR_027676.1:n.5330-300_5330-299insAC
NM_007294.4:c.5194-300_5194-299insAC MANE Select NP_009225.1:n.5194-300_5194-299insAC
NM_007297.4:c.5053-300_5053-299insAC NP_009228.2:n.5053-300_5053-299insAC
NM_007299.4:c.1882-300_1882-299insAC NP_009230.2:n.1882-300_1882-299insAC
NM_007300.4:c.5257-300_5257-299insAC NP_009231.2:n.5257-300_5257-299insAC
NR_027676.2:n.5371-300_5371-299insAC