Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506743_122506744del , CM000672.2:g.122506743_122506744del | GRCh38 |
| NC_000010.10:g.124266259_124266260del , CM000672.1:g.124266259_124266260del | GRCh37 |
| NC_000010.9:g.124256249_124256250del | NCBI36 |
| NG_011554.1:g.50219_50220del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.830_831del MANE Select | ENSP00000357980.3:p.Glu277ValfsTer? | |
| ENST00000648167.1:c.512_513del | ENSP00000498033.1:p.Glu171ValfsTer? | |
| ENST00000368984.7:c.830_831del | ENSP00000357980.3:p.Glu277ValfsTer? | |
| ENST00000420892.1:c.53_54del | ENSP00000412676.1:p.Glu18ValfsTer? | |
| NM_002775.4:c.830_831del | NP_002766.1:p.Glu277ValfsTer? | |
| NM_002775.5:c.830_831del MANE Select | NP_002766.1:p.Glu277ValfsTer? |