ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32357779_32357782del , CM000675.2:g.32357779_32357782del | GRCh38 |
| NC_000013.10:g.32931916_32931919del , CM000675.1:g.32931916_32931919del | GRCh37 |
| NC_000013.9:g.31829916_31829919del | NCBI36 |
| NG_012772.3:g.47300_47303del , LRG_293:g.47300_47303del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.7655_7658del | ENSP00000434898.2:p.Ile2552ThrfsTer? | |
| ENST00000528762.2:c.7655_7658del | ENSP00000433168.2:p.Ile2552ThrfsTer? | |
| ENST00000530893.7:c.7286_7289del | ENSP00000499438.2:p.Ile2429ThrfsTer? | |
| ENST00000665585.2:c.7655_7658del | ENSP00000499570.2:p.Ile2552ThrfsTer? | |
| ENST00000666593.2:c.7655_7658del | ENSP00000499256.2:p.Ile2552ThrfsTer? | |
| ENST00000700202.2:c.7655_7658del | ENSP00000514856.2:p.Ile2552ThrfsTer? | |
| ENST00000700202.1:c.122_125del | ENSP00000514856.1:p.Ile41ThrfsTer? | |
| ENST00000380152.8:c.7655_7658del MANE Select | ENSP00000369497.3:p.Ile2552ThrfsTer? | |
| ENST00000544455.6:c.7655_7658del | ENSP00000439902.1:p.Ile2552ThrfsTer? | |
| ENST00000614259.2:c.7655_7658del | ENSP00000506251.1:p.Ile2552ThrfsTer? | |
| ENST00000665585.1:c.220_223del | ||
| ENST00000680887.1:c.7655_7658del | ENSP00000505508.1:p.Ile2552ThrfsTer? | |
| ENST00000380152.7:c.7655_7658del | ENSP00000369497.3:p.Ile2552ThrfsTer? | |
| ENST00000544455.5:c.7655_7658del | ENSP00000439902.1:p.Ile2552ThrfsTer? | |
| ENST00000614259.1:n.7655_7658del | ||
| NM_000059.3:c.7655_7658del , LRG_293t1:c.7655_7658del | NP_000050.2:p.Ile2552ThrfsTer? | |
| XM_011535203.1:c.7655_7658del | XP_011533505.1:p.Ile2552ThrfsTer? | |
| XM_011535204.1:c.7559_7562del | XP_011533506.1:p.Ile2520ThrfsTer? | |
| XM_011535205.1:c.7655_7658del | XP_011533507.1:p.Ile2552ThrfsTer? | |
| NM_000059.4:c.7655_7658del MANE Select | NP_000050.3:p.Ile2552ThrfsTer? |