Canonical Allele Identifier: CA2537663596
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43061844_43061845insCA , CM000679.2:g.43061844_43061845insCA GRCh38
NC_000017.10:g.41213861_41213862insCA , CM000679.1:g.41213861_41213862insCA GRCh37
NC_000017.9:g.38467387_38467388insCA NCBI36
NG_005905.2:g.156139_156140insTG , LRG_292:g.156139_156140insTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5190+1488_5190+1489insTG ENSP00000417241.2:n.5190+1488_5190+1489insTG
ENST00000470026.6:c.5193+1488_5193+1489insTG ENSP00000419274.2:n.5193+1488_5193+1489insTG
ENST00000473961.6:c.5067+1488_5067+1489insTG ENSP00000420201.2:n.5067+1488_5067+1489insTG
ENST00000476777.6:c.5187+1488_5187+1489insTG ENSP00000417554.2:n.5187+1488_5187+1489insTG
ENST00000477152.6:c.5115+1488_5115+1489insTG ENSP00000419988.2:n.5115+1488_5115+1489insTG
ENST00000478531.6:c.1881+1488_1881+1489insTG ENSP00000420412.2:n.1881+1488_1881+1489insTG
ENST00000489037.2:c.5115+1488_5115+1489insTG ENSP00000420781.2:n.5115+1488_5115+1489insTG
ENST00000493919.6:c.1743+1488_1743+1489insTG ENSP00000418819.2:n.1743+1488_1743+1489insTG
ENST00000494123.6:c.5193+1488_5193+1489insTG ENSP00000419103.2:n.5193+1488_5193+1489insTG
ENST00000497488.2:c.4305+1488_4305+1489insTG ENSP00000418986.2:n.4305+1488_4305+1489insTG
ENST00000618469.2:c.5193+1488_5193+1489insTG ENSP00000478114.2:n.5193+1488_5193+1489insTG
ENST00000634433.2:c.5070+1488_5070+1489insTG ENSP00000489431.2:n.5070+1488_5070+1489insTG
ENST00000644379.2:c.5259+1488_5259+1489insTG ENSP00000496570.2:n.5259+1488_5259+1489insTG
ENST00000644555.2:c.1743+1488_1743+1489insTG ENSP00000494614.2:n.1743+1488_1743+1489insTG
ENST00000652672.2:c.5052+1488_5052+1489insTG ENSP00000498906.2:n.5052+1488_5052+1489insTG
ENST00000484087.6:c.1755+1488_1755+1489insTG ENSP00000419481.2:n.1755+1488_1755+1489insTG
ENST00000357654.9:c.5193+1488_5193+1489insTG MANE Select ENSP00000350283.3:n.5193+1488_5193+1489insTG
ENST00000471181.7:c.5256+1488_5256+1489insTG ENSP00000418960.2:n.5256+1488_5256+1489insTG
ENST00000644379.1:c.1580+1488_1580+1489insTG
ENST00000352993.7:c.1767+1488_1767+1489insTG ENSP00000312236.5:n.1767+1488_1767+1489insTG
ENST00000357654.7:c.5193+1488_5193+1489insTG ENSP00000350283.3:n.5193+1488_5193+1489insTG
ENST00000461221.5:c.*4976+1488_*4976+1489insTG ENSP00000418548.1:n.*4976+1488_*4976+1489insTG
ENST00000468300.5:c.1881+1488_1881+1489insTG ENSP00000417148.1:n.1881+1488_1881+1489insTG
ENST00000471181.6:c.5256+1488_5256+1489insTG ENSP00000418960.2:n.5256+1488_5256+1489insTG
ENST00000491747.6:c.1881+1488_1881+1489insTG ENSP00000420705.2:n.1881+1488_1881+1489insTG
ENST00000493795.5:c.5052+1488_5052+1489insTG ENSP00000418775.1:n.5052+1488_5052+1489insTG
ENST00000586385.5:c.123+1488_123+1489insTG ENSP00000465818.1:n.123+1488_123+1489insTG
ENST00000591534.5:c.666+1488_666+1489insTG ENSP00000467329.1:n.666+1488_666+1489insTG
ENST00000591849.5:c.-98-11655_-98-11654insTG ENSP00000465347.1:n.-98-11655_-98-11654insTG
NM_007294.3:c.5193+1488_5193+1489insTG , LRG_292t1:c.5193+1488_5193+1489insTG NP_009225.1:n.5193+1488_5193+1489insTG
NM_007297.3:c.5052+1488_5052+1489insTG NP_009228.2:n.5052+1488_5052+1489insTG
NM_007298.3:c.1881+1488_1881+1489insTG NP_009229.2:n.1881+1488_1881+1489insTG
NM_007299.3:c.1881+1488_1881+1489insTG NP_009230.2:n.1881+1488_1881+1489insTG
NM_007300.3:c.5256+1488_5256+1489insTG NP_009231.2:n.5256+1488_5256+1489insTG
NR_027676.1:n.5329+1488_5329+1489insTG
NM_007294.4:c.5193+1488_5193+1489insTG MANE Select NP_009225.1:n.5193+1488_5193+1489insTG
NM_007297.4:c.5052+1488_5052+1489insTG NP_009228.2:n.5052+1488_5052+1489insTG
NM_007299.4:c.1881+1488_1881+1489insTG NP_009230.2:n.1881+1488_1881+1489insTG
NM_007300.4:c.5256+1488_5256+1489insTG NP_009231.2:n.5256+1488_5256+1489insTG
NR_027676.2:n.5370+1488_5370+1489insTG