Canonical Allele Identifier: CA2638061737
Gene: BRCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43067255_43067256insCT , CM000679.2:g.43067255_43067256insCT GRCh38
NC_000017.10:g.41219272_41219273insCT , CM000679.1:g.41219272_41219273insCT GRCh37
NC_000017.9:g.38472798_38472799insCT NCBI36
NG_005905.2:g.150728_150729insAG , LRG_292:g.150728_150729insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5071+352_5071+353insAG ENSP00000417241.2:n.5071+352_5071+353insAG
ENST00000470026.6:c.5074+352_5074+353insAG ENSP00000419274.2:n.5074+352_5074+353insAG
ENST00000473961.6:c.4948+352_4948+353insAG ENSP00000420201.2:n.4948+352_4948+353insAG
ENST00000476777.6:c.5068+352_5068+353insAG ENSP00000417554.2:n.5068+352_5068+353insAG
ENST00000477152.6:c.4996+352_4996+353insAG ENSP00000419988.2:n.4996+352_4996+353insAG
ENST00000478531.6:c.1762+352_1762+353insAG ENSP00000420412.2:n.1762+352_1762+353insAG
ENST00000489037.2:c.4996+352_4996+353insAG ENSP00000420781.2:n.4996+352_4996+353insAG
ENST00000493919.6:c.1624+352_1624+353insAG ENSP00000418819.2:n.1624+352_1624+353insAG
ENST00000494123.6:c.5074+352_5074+353insAG ENSP00000419103.2:n.5074+352_5074+353insAG
ENST00000497488.2:c.4186+352_4186+353insAG ENSP00000418986.2:n.4186+352_4186+353insAG
ENST00000618469.2:c.5074+352_5074+353insAG ENSP00000478114.2:n.5074+352_5074+353insAG
ENST00000634433.2:c.4951+352_4951+353insAG ENSP00000489431.2:n.4951+352_4951+353insAG
ENST00000644379.2:c.5140+352_5140+353insAG ENSP00000496570.2:n.5140+352_5140+353insAG
ENST00000644555.2:c.1624+352_1624+353insAG ENSP00000494614.2:n.1624+352_1624+353insAG
ENST00000652672.2:c.4933+352_4933+353insAG ENSP00000498906.2:n.4933+352_4933+353insAG
ENST00000484087.6:c.1636+352_1636+353insAG ENSP00000419481.2:n.1636+352_1636+353insAG
ENST00000357654.9:c.5074+352_5074+353insAG MANE Select ENSP00000350283.3:n.5074+352_5074+353insAG
ENST00000471181.7:c.5137+352_5137+353insAG ENSP00000418960.2:n.5137+352_5137+353insAG
ENST00000644379.1:c.1461+352_1461+353insAG
ENST00000352993.7:c.1648+352_1648+353insAG ENSP00000312236.5:n.1648+352_1648+353insAG
ENST00000357654.7:c.5074+352_5074+353insAG ENSP00000350283.3:n.5074+352_5074+353insAG
ENST00000461221.5:c.*4857+352_*4857+353insAG ENSP00000418548.1:n.*4857+352_*4857+353insAG
ENST00000468300.5:c.1762+352_1762+353insAG ENSP00000417148.1:n.1762+352_1762+353insAG
ENST00000471181.6:c.5137+352_5137+353insAG ENSP00000418960.2:n.5137+352_5137+353insAG
ENST00000478531.5:c.1762+352_1762+353insAG ENSP00000420412.1:n.1762+352_1762+353insAG
ENST00000484087.5:c.1387+352_1387+353insAG ENSP00000419481.1:n.1387+352_1387+353insAG
ENST00000491747.6:c.1762+352_1762+353insAG ENSP00000420705.2:n.1762+352_1762+353insAG
ENST00000493795.5:c.4933+352_4933+353insAG ENSP00000418775.1:n.4933+352_4933+353insAG
ENST00000493919.5:c.1624+352_1624+353insAG ENSP00000418819.1:n.1624+352_1624+353insAG
ENST00000586385.5:c.5-3305_5-3304insAG ENSP00000465818.1:n.5-3305_5-3304insAG
ENST00000591534.5:c.547+352_547+353insAG ENSP00000467329.1:n.547+352_547+353insAG
ENST00000591849.5:c.-98-17066_-98-17065insAG ENSP00000465347.1:n.-98-17066_-98-17065insAG
NM_007294.3:c.5074+352_5074+353insAG , LRG_292t1:c.5074+352_5074+353insAG NP_009225.1:n.5074+352_5074+353insAG
NM_007297.3:c.4933+352_4933+353insAG NP_009228.2:n.4933+352_4933+353insAG
NM_007298.3:c.1762+352_1762+353insAG NP_009229.2:n.1762+352_1762+353insAG
NM_007299.3:c.1762+352_1762+353insAG NP_009230.2:n.1762+352_1762+353insAG
NM_007300.3:c.5137+352_5137+353insAG NP_009231.2:n.5137+352_5137+353insAG
NR_027676.1:n.5210+352_5210+353insAG
NM_007294.4:c.5074+352_5074+353insAG MANE Select NP_009225.1:n.5074+352_5074+353insAG
NM_007297.4:c.4933+352_4933+353insAG NP_009228.2:n.4933+352_4933+353insAG
NM_007299.4:c.1762+352_1762+353insAG NP_009230.2:n.1762+352_1762+353insAG
NM_007300.4:c.5137+352_5137+353insAG NP_009231.2:n.5137+352_5137+353insAG
NR_027676.2:n.5251+352_5251+353insAG