This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
BRCA Exchange:
Summary View
CA387767523
Pop AF ACMG Code (provisional)
No code met (below threshold)
Revel Score:
ENST00000380152 (MANE Select)
0.105
ENST00000544455
0.105
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398490A>T , CM000675.2:g.32398490A>T | GRCh38 |
| NC_000013.10:g.32972627A>T , CM000675.1:g.32972627A>T | GRCh37 |
| NC_000013.9:g.31870627A>T | NCBI36 |
| NG_012772.3:g.88011A>T , LRG_293:g.88011A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*500A>T | ENSP00000434898.2:n.*500A>T | |
| ENST00000528762.2:c.*1344A>T | ENSP00000433168.2:n.*1344A>T | |
| ENST00000530893.7:c.9608A>T | ENSP00000499438.2:p.Lys3203Ile | |
| ENST00000665585.2:c.*1539A>T | ENSP00000499570.2:n.*1539A>T | |
| ENST00000700202.2:c.9926A>T | ENSP00000514856.2:p.Lys3309Ile | |
| ENST00000700202.1:c.2393A>T | ENSP00000514856.1:p.Lys798Ile | |
| ENST00000700203.1:n.2104A>T | ||
| ENST00000380152.8:c.9977A>T MANE Select | ENSP00000369497.3:p.Lys3326Ile | |
| ENST00000544455.6:c.9977A>T | ENSP00000439902.1:p.Lys3326Ile | |
| ENST00000614259.2:c.9985A>T | ENSP00000506251.1:n.9985A>T | |
| ENST00000680887.1:c.9977A>T | ENSP00000505508.1:p.Lys3326Ile | |
| ENST00000380152.7:c.9977A>T | ENSP00000369497.3:p.Lys3326Ile | |
| ENST00000544455.5:c.9977A>T | ENSP00000439902.1:p.Lys3326Ile | |
| NM_000059.3:c.9977A>T , LRG_293t1:c.9977A>T | NP_000050.2:p.Lys3326Ile | |
| XM_011535203.1:c.9977A>T | XP_011533505.1:p.Lys3326Ile | |
| XM_011535204.1:c.9881A>T | XP_011533506.1:p.Lys3294Ile | |
| NM_000059.4:c.9977A>T MANE Select | NP_000050.3:p.Lys3326Ile |