Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871436del , CM000667.2:g.14871436del | GRCh38 |
| NC_000005.9:g.14871545del , CM000667.1:g.14871545del | GRCh37 |
| NC_000005.8:g.14924545del | NCBI36 |
| NG_008273.1:g.5345del | |
| NG_008273.2:g.5352del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.14del MANE Select | ENSP00000284268.6:p.Pro5ArgfsTer9 | |
| ENST00000284268.6:c.14del | ENSP00000284268.6:p.Pro5ArgfsTer9 | |
| ENST00000505140.1:c.14del | ENSP00000426332.1:p.Pro5ArgfsTer9 | |
| ENST00000513115.1:n.39del | ||
| NM_054027.4:c.14del | NP_473368.1:p.Pro5ArgfsTer9 | |
| XM_011514067.1:c.14del | XP_011512369.1:p.Pro5ArgfsTer9 | |
| NM_054027.5:c.14del | NP_473368.1:p.Pro5ArgfsTer9 | |
| NM_054027.6:c.14del MANE Select | NP_473368.1:p.Pro5ArgfsTer9 |