Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008137dup , CM000666.2:g.88008137dup | GRCh38 |
| NC_000004.11:g.88929289dup , CM000666.1:g.88929289dup | GRCh37 |
| NC_000004.10:g.89148313dup | NCBI36 |
| NG_008604.1:g.5470dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.404dup MANE Select | ENSP00000237596.2:p.Ala136ArgfsTer? | |
| ENST00000237596.6:c.404dup | ENSP00000237596.2:p.Ala136ArgfsTer? | |
| NM_000297.3:c.404dup | NP_000288.1:p.Ala136ArgfsTer? | |
| XM_011532028.1:c.404dup | XP_011530330.1:p.Ala136ArgfsTer? | |
| XR_244632.2:n.499dup | ||
| NR_156488.1:n.491dup | ||
| XM_011532028.2:c.404dup | XP_011530330.1:p.Ala136ArgfsTer? | |
| NM_000297.4:c.404dup MANE Select | NP_000288.1:p.Ala136ArgfsTer? | |
| NR_156488.2:n.503dup |