Canonical Allele Identifier: CA2825002477
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3148649
ClinVar RCV Id: RCV004442543

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091443_43091445delinsTAT , CM000679.2:g.43091443_43091445delinsTAT GRCh38
NC_000017.10:g.41243460_41243462delinsTAT , CM000679.1:g.41243460_41243462delinsTAT GRCh37
NC_000017.9:g.38496986_38496988delinsTAT NCBI36
NG_005905.2:g.126539_126541delinsATA , LRG_292:g.126539_126541delinsATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4150_4152delinsATA
ENST00000461574.2:c.4086_4088delinsATA ENSP00000417241.2:p.Asp1362GlufsTer2
ENST00000470026.6:c.4086_4088delinsATA ENSP00000419274.2:p.Asp1362GlufsTer2
ENST00000473961.6:c.3960_3962delinsATA ENSP00000420201.2:p.Asp1320GlufsTer2
ENST00000476777.6:c.4083_4085delinsATA ENSP00000417554.2:p.Asp1361GlufsTer2
ENST00000477152.6:c.4008_4010delinsATA ENSP00000419988.2:p.Asp1336GlufsTer2
ENST00000478531.6:c.785-413_785-411delinsATA ENSP00000420412.2:n.785-413_785-411delinsATA
ENST00000489037.2:c.4008_4010delinsATA ENSP00000420781.2:p.Asp1336GlufsTer2
ENST00000493919.6:c.647-413_647-411delinsATA ENSP00000418819.2:n.647-413_647-411delinsATA
ENST00000494123.6:c.4086_4088delinsATA ENSP00000419103.2:p.Asp1362GlufsTer2
ENST00000497488.2:c.3198_3200delinsATA ENSP00000418986.2:p.Asp1066GlufsTer2
ENST00000618469.2:c.4086_4088delinsATA ENSP00000478114.2:p.Asp1362GlufsTer2
ENST00000634433.2:c.3963_3965delinsATA ENSP00000489431.2:p.Asp1321GlufsTer2
ENST00000644379.2:c.4086_4088delinsATA ENSP00000496570.2:p.Asp1362GlufsTer2
ENST00000644555.2:c.647-413_647-411delinsATA ENSP00000494614.2:n.647-413_647-411delinsATA
ENST00000652672.2:c.3945_3947delinsATA ENSP00000498906.2:p.Asp1315GlufsTer2
ENST00000484087.6:c.665-413_665-411delinsATA ENSP00000419481.2:n.665-413_665-411delinsATA
ENST00000700182.1:c.707-413_707-411delinsATA ENSP00000514849.1:n.707-413_707-411delinsATA
ENST00000357654.9:c.4086_4088delinsATA MANE Select ENSP00000350283.3:p.Asp1362GlufsTer2
ENST00000471181.7:c.4086_4088delinsATA ENSP00000418960.2:p.Asp1362GlufsTer2
ENST00000644379.1:c.407_409delinsATA
ENST00000352993.7:c.671-413_671-411delinsATA ENSP00000312236.5:n.671-413_671-411delinsATA
ENST00000354071.7:c.4086_4088delinsATA ENSP00000326002.7:p.Asp1362GlufsTer2
ENST00000357654.7:c.4086_4088delinsATA ENSP00000350283.3:p.Asp1362GlufsTer2
ENST00000461221.5:c.*3869_*3871delinsATA ENSP00000418548.1:n.*3869_*3871delinsATA
ENST00000461574.1:c.380_382delinsATA
ENST00000468300.5:c.788-413_788-411delinsATA ENSP00000417148.1:n.788-413_788-411delinsATA
ENST00000471181.6:c.4086_4088delinsATA ENSP00000418960.2:p.Asp1362GlufsTer2
ENST00000478531.5:c.785-413_785-411delinsATA ENSP00000420412.1:n.785-413_785-411delinsATA
ENST00000484087.5:c.410-413_410-411delinsATA ENSP00000419481.1:n.410-413_410-411delinsATA
ENST00000487825.5:c.413-413_413-411delinsATA ENSP00000418212.1:n.413-413_413-411delinsATA
ENST00000491747.6:c.788-413_788-411delinsATA ENSP00000420705.2:n.788-413_788-411delinsATA
ENST00000493795.5:c.3945_3947delinsATA ENSP00000418775.1:p.Asp1315GlufsTer2
ENST00000493919.5:c.647-413_647-411delinsATA ENSP00000418819.1:n.647-413_647-411delinsATA
ENST00000586385.5:c.5-27494_5-27492delinsATA ENSP00000465818.1:n.5-27494_5-27492delinsATA
ENST00000591534.5:c.-43-16924_-43-16922delinsATA ENSP00000467329.1:n.-43-16924_-43-16922delinsATA
ENST00000591849.5:c.-99+33826_-99+33828delinsATA ENSP00000465347.1:n.-99+33826_-99+33828delinsATA
NM_007294.3:c.4086_4088delinsATA , LRG_292t1:c.4086_4088delinsATA NP_009225.1:p.Asp1362GlufsTer2
NM_007297.3:c.3945_3947delinsATA NP_009228.2:p.Asp1315GlufsTer2
NM_007298.3:c.788-413_788-411delinsATA NP_009229.2:n.788-413_788-411delinsATA
NM_007299.3:c.788-413_788-411delinsATA NP_009230.2:n.788-413_788-411delinsATA
NM_007300.3:c.4086_4088delinsATA NP_009231.2:p.Asp1362GlufsTer2
NR_027676.1:n.4222_4224delinsATA
NM_007294.4:c.4086_4088delinsATA MANE Select NP_009225.1:p.Asp1362GlufsTer2
NM_007297.4:c.3945_3947delinsATA NP_009228.2:p.Asp1315GlufsTer2
NM_007299.4:c.788-413_788-411delinsATA NP_009230.2:n.788-413_788-411delinsATA
NM_007300.4:c.4086_4088delinsATA NP_009231.2:p.Asp1362GlufsTer2
NR_027676.2:n.4263_4265delinsATA