gnomAD v3:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583511_2583512del , CM000673.2:g.2583511_2583512del | GRCh38 |
| NC_000011.9:g.2604741_2604742del , CM000673.1:g.2604741_2604742del | GRCh37 |
| NC_000011.8:g.2561317_2561318del | NCBI36 |
| NG_008935.1:g.143521_143522del , LRG_287:g.143521_143522del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.737_738del | ENSP00000434560.2:p.Ser246CysfsTer? | |
| ENST00000646564.2:c.554_555del | ENSP00000495806.2:p.Ser185CysfsTer? | |
| ENST00000155840.12:c.998_999del MANE Select | ENSP00000155840.2:p.Ser333CysfsTer? | |
| ENST00000335475.6:c.617_618del | ENSP00000334497.5:p.Ser206CysfsTer? | |
| ENST00000646564.1:c.200_201del | ENSP00000495806.1:p.Ser67CysfsTer? | |
| ENST00000155840.9:c.998_999del | ENSP00000155840.2:p.Ser333CysfsTer? | |
| ENST00000335475.5:c.617_618del | ENSP00000334497.5:p.Ser206CysfsTer? | |
| NM_000218.2:c.998_999del , LRG_287t1:c.998_999del | NP_000209.2:p.Ser333CysfsTer? | |
| NM_181798.1:c.617_618del , LRG_287t2:c.617_618del | NP_861463.1:p.Ser206CysfsTer? | |
| NM_000218.3:c.998_999del MANE Select | NP_000209.2:p.Ser333CysfsTer? |