Canonical Allele Identifier: CA2809538945
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43071310_43071312del , CM000679.2:g.43071310_43071312del GRCh38
NC_000017.10:g.41223327_41223329del , CM000679.1:g.41223327_41223329del GRCh37
NC_000017.9:g.38476853_38476855del NCBI36
NG_005905.2:g.146674_146676del , LRG_292:g.146674_146676del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4673-72_4673-70del ENSP00000417241.2:n.4673-72_4673-70del
ENST00000470026.6:c.4676-72_4676-70del ENSP00000419274.2:n.4676-72_4676-70del
ENST00000473961.6:c.4550-72_4550-70del ENSP00000420201.2:n.4550-72_4550-70del
ENST00000476777.6:c.4670-72_4670-70del ENSP00000417554.2:n.4670-72_4670-70del
ENST00000477152.6:c.4598-72_4598-70del ENSP00000419988.2:n.4598-72_4598-70del
ENST00000478531.6:c.1364-72_1364-70del ENSP00000420412.2:n.1364-72_1364-70del
ENST00000489037.2:c.4598-72_4598-70del ENSP00000420781.2:n.4598-72_4598-70del
ENST00000493919.6:c.1226-72_1226-70del ENSP00000418819.2:n.1226-72_1226-70del
ENST00000494123.6:c.4676-72_4676-70del ENSP00000419103.2:n.4676-72_4676-70del
ENST00000497488.2:c.3788-72_3788-70del ENSP00000418986.2:n.3788-72_3788-70del
ENST00000618469.2:c.4676-72_4676-70del ENSP00000478114.2:n.4676-72_4676-70del
ENST00000634433.2:c.4553-72_4553-70del ENSP00000489431.2:n.4553-72_4553-70del
ENST00000644379.2:c.4742-72_4742-70del ENSP00000496570.2:n.4742-72_4742-70del
ENST00000644555.2:c.1226-72_1226-70del ENSP00000494614.2:n.1226-72_1226-70del
ENST00000652672.2:c.4535-72_4535-70del ENSP00000498906.2:n.4535-72_4535-70del
ENST00000484087.6:c.1238-72_1238-70del ENSP00000419481.2:n.1238-72_1238-70del
ENST00000700182.1:c.1283-72_1283-70del ENSP00000514849.1:n.1283-72_1283-70del
ENST00000357654.9:c.4676-72_4676-70del MANE Select ENSP00000350283.3:n.4676-72_4676-70del
ENST00000471181.7:c.4739-72_4739-70del ENSP00000418960.2:n.4739-72_4739-70del
ENST00000644379.1:c.1063-72_1063-70del
ENST00000352993.7:c.1250-72_1250-70del ENSP00000312236.5:n.1250-72_1250-70del
ENST00000357654.7:c.4676-72_4676-70del ENSP00000350283.3:n.4676-72_4676-70del
ENST00000461221.5:c.*4459-72_*4459-70del ENSP00000418548.1:n.*4459-72_*4459-70del
ENST00000468300.5:c.1364-72_1364-70del ENSP00000417148.1:n.1364-72_1364-70del
ENST00000471181.6:c.4739-72_4739-70del ENSP00000418960.2:n.4739-72_4739-70del
ENST00000478531.5:c.1364-72_1364-70del ENSP00000420412.1:n.1364-72_1364-70del
ENST00000484087.5:c.989-72_989-70del ENSP00000419481.1:n.989-72_989-70del
ENST00000491747.6:c.1364-72_1364-70del ENSP00000420705.2:n.1364-72_1364-70del
ENST00000493795.5:c.4535-72_4535-70del ENSP00000418775.1:n.4535-72_4535-70del
ENST00000493919.5:c.1226-72_1226-70del ENSP00000418819.1:n.1226-72_1226-70del
ENST00000586385.5:c.5-7359_5-7357del ENSP00000465818.1:n.5-7359_5-7357del
ENST00000591534.5:c.149-72_149-70del ENSP00000467329.1:n.149-72_149-70del
ENST00000591849.5:c.-98-21120_-98-21118del ENSP00000465347.1:n.-98-21120_-98-21118del
NM_007294.3:c.4676-72_4676-70del , LRG_292t1:c.4676-72_4676-70del NP_009225.1:n.4676-72_4676-70del
NM_007297.3:c.4535-72_4535-70del NP_009228.2:n.4535-72_4535-70del
NM_007298.3:c.1364-72_1364-70del NP_009229.2:n.1364-72_1364-70del
NM_007299.3:c.1364-72_1364-70del NP_009230.2:n.1364-72_1364-70del
NM_007300.3:c.4739-72_4739-70del NP_009231.2:n.4739-72_4739-70del
NR_027676.1:n.4812-72_4812-70del
NM_007294.4:c.4676-72_4676-70del MANE Select NP_009225.1:n.4676-72_4676-70del
NM_007297.4:c.4535-72_4535-70del NP_009228.2:n.4535-72_4535-70del
NM_007299.4:c.1364-72_1364-70del NP_009230.2:n.1364-72_1364-70del
NM_007300.4:c.4739-72_4739-70del NP_009231.2:n.4739-72_4739-70del
NR_027676.2:n.4853-72_4853-70del