Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008130_88008173del , CM000666.2:g.88008130_88008173del | GRCh38 |
| NC_000004.11:g.88929282_88929325del , CM000666.1:g.88929282_88929325del | GRCh37 |
| NC_000004.10:g.89148306_89148349del | NCBI36 |
| NG_008604.1:g.5463_5506del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000297.4:c.397_440del MANE Select | NP_000288.1:p.Ser133GlyfsTer? |
| ENST00000237596.7:c.397_440del MANE Select | ENSP00000237596.2:p.Ser133GlyfsTer? |
| NM_000297.3:c.397_440del | NP_000288.1:p.Ser133GlyfsTer? |
| NR_156488.1:n.484_527del | |
| NR_156488.2:n.496_539del | |
| ENST00000237596.6:c.397_440del | ENSP00000237596.2:p.Ser133GlyfsTer? |
| XM_011532028.1:c.397_440del | XP_011530330.1:p.Ser133GlyfsTer? |
| XM_011532028.2:c.397_440del | XP_011530330.1:p.Ser133GlyfsTer? |
| XR_244632.2:n.492_535del |