Canonical Allele Identifier: CA2809538696
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43061841_43061843del , CM000679.2:g.43061841_43061843del GRCh38
NC_000017.10:g.41213858_41213860del , CM000679.1:g.41213858_41213860del GRCh37
NC_000017.9:g.38467384_38467386del NCBI36
NG_005905.2:g.156141_156143del , LRG_292:g.156141_156143del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5190+1490_5190+1492del ENSP00000417241.2:n.5190+1490_5190+1492del
ENST00000470026.6:c.5193+1490_5193+1492del ENSP00000419274.2:n.5193+1490_5193+1492del
ENST00000473961.6:c.5067+1490_5067+1492del ENSP00000420201.2:n.5067+1490_5067+1492del
ENST00000476777.6:c.5187+1490_5187+1492del ENSP00000417554.2:n.5187+1490_5187+1492del
ENST00000477152.6:c.5115+1490_5115+1492del ENSP00000419988.2:n.5115+1490_5115+1492del
ENST00000478531.6:c.1881+1490_1881+1492del ENSP00000420412.2:n.1881+1490_1881+1492del
ENST00000489037.2:c.5115+1490_5115+1492del ENSP00000420781.2:n.5115+1490_5115+1492del
ENST00000493919.6:c.1743+1490_1743+1492del ENSP00000418819.2:n.1743+1490_1743+1492del
ENST00000494123.6:c.5193+1490_5193+1492del ENSP00000419103.2:n.5193+1490_5193+1492del
ENST00000497488.2:c.4305+1490_4305+1492del ENSP00000418986.2:n.4305+1490_4305+1492del
ENST00000618469.2:c.5193+1490_5193+1492del ENSP00000478114.2:n.5193+1490_5193+1492del
ENST00000634433.2:c.5070+1490_5070+1492del ENSP00000489431.2:n.5070+1490_5070+1492del
ENST00000644379.2:c.5259+1490_5259+1492del ENSP00000496570.2:n.5259+1490_5259+1492del
ENST00000644555.2:c.1743+1490_1743+1492del ENSP00000494614.2:n.1743+1490_1743+1492del
ENST00000652672.2:c.5052+1490_5052+1492del ENSP00000498906.2:n.5052+1490_5052+1492del
ENST00000484087.6:c.1755+1490_1755+1492del ENSP00000419481.2:n.1755+1490_1755+1492del
ENST00000357654.9:c.5193+1490_5193+1492del MANE Select ENSP00000350283.3:n.5193+1490_5193+1492del
ENST00000471181.7:c.5256+1490_5256+1492del ENSP00000418960.2:n.5256+1490_5256+1492del
ENST00000644379.1:c.1580+1490_1580+1492del
ENST00000352993.7:c.1767+1490_1767+1492del ENSP00000312236.5:n.1767+1490_1767+1492del
ENST00000357654.7:c.5193+1490_5193+1492del ENSP00000350283.3:n.5193+1490_5193+1492del
ENST00000461221.5:c.*4976+1490_*4976+1492del ENSP00000418548.1:n.*4976+1490_*4976+1492del
ENST00000468300.5:c.1881+1490_1881+1492del ENSP00000417148.1:n.1881+1490_1881+1492del
ENST00000471181.6:c.5256+1490_5256+1492del ENSP00000418960.2:n.5256+1490_5256+1492del
ENST00000491747.6:c.1881+1490_1881+1492del ENSP00000420705.2:n.1881+1490_1881+1492del
ENST00000493795.5:c.5052+1490_5052+1492del ENSP00000418775.1:n.5052+1490_5052+1492del
ENST00000586385.5:c.123+1490_123+1492del ENSP00000465818.1:n.123+1490_123+1492del
ENST00000591534.5:c.666+1490_666+1492del ENSP00000467329.1:n.666+1490_666+1492del
ENST00000591849.5:c.-98-11653_-98-11651del ENSP00000465347.1:n.-98-11653_-98-11651del
NM_007294.3:c.5193+1490_5193+1492del , LRG_292t1:c.5193+1490_5193+1492del NP_009225.1:n.5193+1490_5193+1492del
NM_007297.3:c.5052+1490_5052+1492del NP_009228.2:n.5052+1490_5052+1492del
NM_007298.3:c.1881+1490_1881+1492del NP_009229.2:n.1881+1490_1881+1492del
NM_007299.3:c.1881+1490_1881+1492del NP_009230.2:n.1881+1490_1881+1492del
NM_007300.3:c.5256+1490_5256+1492del NP_009231.2:n.5256+1490_5256+1492del
NR_027676.1:n.5329+1490_5329+1492del
NM_007294.4:c.5193+1490_5193+1492del MANE Select NP_009225.1:n.5193+1490_5193+1492del
NM_007297.4:c.5052+1490_5052+1492del NP_009228.2:n.5052+1490_5052+1492del
NM_007299.4:c.1881+1490_1881+1492del NP_009230.2:n.1881+1490_1881+1492del
NM_007300.4:c.5256+1490_5256+1492del NP_009231.2:n.5256+1490_5256+1492del
NR_027676.2:n.5370+1490_5370+1492del