Canonical Allele Identifier: CA2260775402
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43076411_43076412delinsGA , CM000679.2:g.43076411_43076412delinsGA GRCh38
NC_000017.10:g.41228428_41228429delinsGA , CM000679.1:g.41228428_41228429delinsGA GRCh37
NC_000017.9:g.38481954_38481955delinsGA NCBI36
NG_005905.2:g.141572_141573delinsTC , LRG_292:g.141572_141573delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4481+76_4481+77delinsTC ENSP00000417241.2:n.4481+76_4481+77delinsTC
ENST00000470026.6:c.4484+76_4484+77delinsTC ENSP00000419274.2:n.4484+76_4484+77delinsTC
ENST00000473961.6:c.4358+76_4358+77delinsTC ENSP00000420201.2:n.4358+76_4358+77delinsTC
ENST00000476777.6:c.4478+76_4478+77delinsTC ENSP00000417554.2:n.4478+76_4478+77delinsTC
ENST00000477152.6:c.4406+76_4406+77delinsTC ENSP00000419988.2:n.4406+76_4406+77delinsTC
ENST00000478531.6:c.1172+76_1172+77delinsTC ENSP00000420412.2:n.1172+76_1172+77delinsTC
ENST00000489037.2:c.4406+76_4406+77delinsTC ENSP00000420781.2:n.4406+76_4406+77delinsTC
ENST00000493919.6:c.1034+76_1034+77delinsTC ENSP00000418819.2:n.1034+76_1034+77delinsTC
ENST00000494123.6:c.4484+76_4484+77delinsTC ENSP00000419103.2:n.4484+76_4484+77delinsTC
ENST00000497488.2:c.3596+76_3596+77delinsTC ENSP00000418986.2:n.3596+76_3596+77delinsTC
ENST00000618469.2:c.4484+76_4484+77delinsTC ENSP00000478114.2:n.4484+76_4484+77delinsTC
ENST00000634433.2:c.4361+76_4361+77delinsTC ENSP00000489431.2:n.4361+76_4361+77delinsTC
ENST00000644379.2:c.4550+76_4550+77delinsTC ENSP00000496570.2:n.4550+76_4550+77delinsTC
ENST00000644555.2:c.1034+76_1034+77delinsTC ENSP00000494614.2:n.1034+76_1034+77delinsTC
ENST00000652672.2:c.4343+76_4343+77delinsTC ENSP00000498906.2:n.4343+76_4343+77delinsTC
ENST00000484087.6:c.1046+76_1046+77delinsTC ENSP00000419481.2:n.1046+76_1046+77delinsTC
ENST00000700182.1:c.1091+76_1091+77delinsTC ENSP00000514849.1:n.1091+76_1091+77delinsTC
ENST00000357654.9:c.4484+76_4484+77delinsTC MANE Select ENSP00000350283.3:n.4484+76_4484+77delinsTC
ENST00000471181.7:c.4547+76_4547+77delinsTC ENSP00000418960.2:n.4547+76_4547+77delinsTC
ENST00000644379.1:c.871+76_871+77delinsTC
ENST00000352993.7:c.1058+76_1058+77delinsTC ENSP00000312236.5:n.1058+76_1058+77delinsTC
ENST00000357654.7:c.4484+76_4484+77delinsTC ENSP00000350283.3:n.4484+76_4484+77delinsTC
ENST00000461221.5:c.*4267+76_*4267+77delinsTC ENSP00000418548.1:n.*4267+76_*4267+77delinsTC
ENST00000468300.5:c.1172+76_1172+77delinsTC ENSP00000417148.1:n.1172+76_1172+77delinsTC
ENST00000471181.6:c.4547+76_4547+77delinsTC ENSP00000418960.2:n.4547+76_4547+77delinsTC
ENST00000478531.5:c.1172+76_1172+77delinsTC ENSP00000420412.1:n.1172+76_1172+77delinsTC
ENST00000484087.5:c.797+76_797+77delinsTC ENSP00000419481.1:n.797+76_797+77delinsTC
ENST00000491747.6:c.1172+76_1172+77delinsTC ENSP00000420705.2:n.1172+76_1172+77delinsTC
ENST00000493795.5:c.4343+76_4343+77delinsTC ENSP00000418775.1:n.4343+76_4343+77delinsTC
ENST00000493919.5:c.1034+76_1034+77delinsTC ENSP00000418819.1:n.1034+76_1034+77delinsTC
ENST00000586385.5:c.5-12461_5-12460delinsTC ENSP00000465818.1:n.5-12461_5-12460delinsTC
ENST00000591534.5:c.-43-1891_-43-1890delinsTC ENSP00000467329.1:n.-43-1891_-43-1890delinsTC
ENST00000591849.5:c.-98-26222_-98-26221delinsTC ENSP00000465347.1:n.-98-26222_-98-26221delinsTC
NM_007294.3:c.4484+76_4484+77delinsTC , LRG_292t1:c.4484+76_4484+77delinsTC NP_009225.1:n.4484+76_4484+77delinsTC
NM_007297.3:c.4343+76_4343+77delinsTC NP_009228.2:n.4343+76_4343+77delinsTC
NM_007298.3:c.1172+76_1172+77delinsTC NP_009229.2:n.1172+76_1172+77delinsTC
NM_007299.3:c.1172+76_1172+77delinsTC NP_009230.2:n.1172+76_1172+77delinsTC
NM_007300.3:c.4547+76_4547+77delinsTC NP_009231.2:n.4547+76_4547+77delinsTC
NR_027676.1:n.4620+76_4620+77delinsTC
NM_007294.4:c.4484+76_4484+77delinsTC MANE Select NP_009225.1:n.4484+76_4484+77delinsTC
NM_007297.4:c.4343+76_4343+77delinsTC NP_009228.2:n.4343+76_4343+77delinsTC
NM_007299.4:c.1172+76_1172+77delinsTC NP_009230.2:n.1172+76_1172+77delinsTC
NM_007300.4:c.4547+76_4547+77delinsTC NP_009231.2:n.4547+76_4547+77delinsTC
NR_027676.2:n.4661+76_4661+77delinsTC