Linked Data
ClinVar Variation Id:
52381
dbSNP Id:
rs80359673
gnomAD v4:
13-32357800-CTT-C
PubMed:
PMID:9654203
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32357803_32357804del , CM000675.2:g.32357803_32357804del | GRCh38 |
| NC_000013.10:g.32931940_32931941del , CM000675.1:g.32931940_32931941del | GRCh37 |
| NC_000013.9:g.31829940_31829941del | NCBI36 |
| NG_012772.3:g.47324_47325del , LRG_293:g.47324_47325del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.7679_7680del | ENSP00000434898.2:p.Phe2560SerfsTer5 | |
| ENST00000528762.2:c.7679_7680del | ENSP00000433168.2:p.Phe2560SerfsTer5 | |
| ENST00000530893.7:c.7310_7311del | ENSP00000499438.2:p.Phe2437SerfsTer5 | |
| ENST00000665585.2:c.7679_7680del | ENSP00000499570.2:p.Phe2560SerfsTer5 | |
| ENST00000666593.2:c.7679_7680del | ENSP00000499256.2:p.Phe2560SerfsTer5 | |
| ENST00000700202.2:c.7679_7680del | ENSP00000514856.2:p.Phe2560SerfsTer5 | |
| ENST00000700202.1:c.146_147del | ENSP00000514856.1:p.Phe49SerfsTer5 | |
| ENST00000380152.8:c.7679_7680del MANE Select | ENSP00000369497.3:p.Phe2560SerfsTer5 | |
| ENST00000544455.6:c.7679_7680del | ENSP00000439902.1:p.Phe2560SerfsTer5 | |
| ENST00000614259.2:c.7679_7680del | ENSP00000506251.1:p.Phe2560SerfsTer5 | |
| ENST00000665585.1:c.244_245del | ||
| ENST00000680887.1:c.7679_7680del | ENSP00000505508.1:p.Phe2560SerfsTer5 | |
| ENST00000380152.7:c.7679_7680del | ENSP00000369497.3:p.Phe2560SerfsTer5 | |
| ENST00000544455.5:c.7679_7680del | ENSP00000439902.1:p.Phe2560SerfsTer5 | |
| ENST00000614259.1:n.7679_7680del | ||
| NM_000059.3:c.7679_7680del , LRG_293t1:c.7679_7680del | NP_000050.2:p.Phe2560SerfsTer5 | |
| XM_011535203.1:c.7679_7680del | XP_011533505.1:p.Phe2560SerfsTer5 | |
| XM_011535204.1:c.7583_7584del | XP_011533506.1:p.Phe2528SerfsTer5 | |
| XM_011535205.1:c.7679_7680del | XP_011533507.1:p.Phe2560SerfsTer5 | |
| NM_000059.4:c.7679_7680del MANE Select | NP_000050.3:p.Phe2560SerfsTer5 |