Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949962_43949966del , CM000685.2:g.43949962_43949966del | GRCh38 |
| NC_000023.10:g.43809208_43809212del , CM000685.1:g.43809208_43809212del | GRCh37 |
| NC_000023.9:g.43694152_43694156del | NCBI36 |
| NG_009832.1:g.28712_28716del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.237_241del (NDP) MANE Select | ENSP00000495972.1:p.Ser80GlnfsTer? | |
| ENST00000647044.1:c.237_241del (NDP) | ENSP00000495811.1:p.Ser80GlnfsTer? | |
| ENST00000378062.5:c.237_241del (NDP) | ENSP00000367301.5:p.Ser80GlnfsTer? | |
| ENST00000470584.1:n.281_285del (NDP) | ||
| NM_000266.3:c.237_241del (NDP) | NP_000257.1:p.Ser80GlnfsTer? | |
| NR_046631.1:n.231_235del (NDP-AS1) | ||
| NM_000266.4:c.237_241del (NDP) MANE Select | NP_000257.1:p.Ser80GlnfsTer? |