Canonical Allele Identifier: CA2260766614
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs2051549421

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43057432_43057433del , CM000679.2:g.43057432_43057433del GRCh38
NC_000017.10:g.41209449_41209450del , CM000679.1:g.41209449_41209450del GRCh37
NC_000017.9:g.38462975_38462976del NCBI36
NG_005905.2:g.160551_160552del , LRG_292:g.160551_160552del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5191-298_5191-297del ENSP00000417241.2:n.5191-298_5191-297del
ENST00000470026.6:c.5194-298_5194-297del ENSP00000419274.2:n.5194-298_5194-297del
ENST00000473961.6:c.5068-298_5068-297del ENSP00000420201.2:n.5068-298_5068-297del
ENST00000476777.6:c.5188-298_5188-297del ENSP00000417554.2:n.5188-298_5188-297del
ENST00000477152.6:c.5116-298_5116-297del ENSP00000419988.2:n.5116-298_5116-297del
ENST00000478531.6:c.1882-298_1882-297del ENSP00000420412.2:n.1882-298_1882-297del
ENST00000489037.2:c.5116-298_5116-297del ENSP00000420781.2:n.5116-298_5116-297del
ENST00000493919.6:c.1744-298_1744-297del ENSP00000418819.2:n.1744-298_1744-297del
ENST00000494123.6:c.5194-298_5194-297del ENSP00000419103.2:n.5194-298_5194-297del
ENST00000497488.2:c.4306-298_4306-297del ENSP00000418986.2:n.4306-298_4306-297del
ENST00000618469.2:c.5194-298_5194-297del ENSP00000478114.2:n.5194-298_5194-297del
ENST00000634433.2:c.5071-298_5071-297del ENSP00000489431.2:n.5071-298_5071-297del
ENST00000644379.2:c.5260-298_5260-297del ENSP00000496570.2:n.5260-298_5260-297del
ENST00000644555.2:c.1744-298_1744-297del ENSP00000494614.2:n.1744-298_1744-297del
ENST00000652672.2:c.5053-298_5053-297del ENSP00000498906.2:n.5053-298_5053-297del
ENST00000484087.6:c.1756-298_1756-297del ENSP00000419481.2:n.1756-298_1756-297del
ENST00000357654.9:c.5194-298_5194-297del MANE Select ENSP00000350283.3:n.5194-298_5194-297del
ENST00000471181.7:c.5257-298_5257-297del ENSP00000418960.2:n.5257-298_5257-297del
ENST00000644379.1:c.1581-298_1581-297del
ENST00000352993.7:c.1768-298_1768-297del ENSP00000312236.5:n.1768-298_1768-297del
ENST00000357654.7:c.5194-298_5194-297del ENSP00000350283.3:n.5194-298_5194-297del
ENST00000461221.5:c.*4977-298_*4977-297del ENSP00000418548.1:n.*4977-298_*4977-297del
ENST00000468300.5:c.1882-298_1882-297del ENSP00000417148.1:n.1882-298_1882-297del
ENST00000471181.6:c.5257-298_5257-297del ENSP00000418960.2:n.5257-298_5257-297del
ENST00000491747.6:c.1882-298_1882-297del ENSP00000420705.2:n.1882-298_1882-297del
ENST00000493795.5:c.5053-298_5053-297del ENSP00000418775.1:n.5053-298_5053-297del
ENST00000586385.5:c.124-298_124-297del ENSP00000465818.1:n.124-298_124-297del
ENST00000591534.5:c.667-298_667-297del ENSP00000467329.1:n.667-298_667-297del
ENST00000591849.5:c.-98-7243_-98-7242del ENSP00000465347.1:n.-98-7243_-98-7242del
NM_007294.3:c.5194-298_5194-297del , LRG_292t1:c.5194-298_5194-297del NP_009225.1:n.5194-298_5194-297del
NM_007297.3:c.5053-298_5053-297del NP_009228.2:n.5053-298_5053-297del
NM_007298.3:c.1882-298_1882-297del NP_009229.2:n.1882-298_1882-297del
NM_007299.3:c.1882-298_1882-297del NP_009230.2:n.1882-298_1882-297del
NM_007300.3:c.5257-298_5257-297del NP_009231.2:n.5257-298_5257-297del
NR_027676.1:n.5330-298_5330-297del
NM_007294.4:c.5194-298_5194-297del MANE Select NP_009225.1:n.5194-298_5194-297del
NM_007297.4:c.5053-298_5053-297del NP_009228.2:n.5053-298_5053-297del
NM_007299.4:c.1882-298_1882-297del NP_009230.2:n.1882-298_1882-297del
NM_007300.4:c.5257-298_5257-297del NP_009231.2:n.5257-298_5257-297del
NR_027676.2:n.5371-298_5371-297del