Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47839589_47839590dup , CM000681.2:g.47839589_47839590dup | GRCh38 |
| NC_000019.9:g.48342846_48342847dup , CM000681.1:g.48342846_48342847dup | GRCh37 |
| NC_000019.8:g.53034658_53034659dup | NCBI36 |
| NG_008605.1:g.22748_22749dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221996.12:c.522_523dup MANE Select | ENSP00000221996.5:p.Gln175ArgfsTer13 | |
| ENST00000221996.11:c.522_523dup | ENSP00000221996.5:p.Gln175ArgfsTer13 | |
| ENST00000539067.5:c.522_523dup | ENSP00000445565.1:p.Gln175ArgfsTer13 | |
| ENST00000613299.1:c.*244_*245dup | ENSP00000478106.1:n.*244_*245dup | |
| NM_000554.4:c.522_523dup | NP_000545.1:p.Gln175ArgfsTer13 | |
| NM_000554.5:c.522_523dup | NP_000545.1:p.Gln175ArgfsTer13 | |
| NM_000554.6:c.522_523dup MANE Select | NP_000545.1:p.Gln175ArgfsTer13 |