gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194519dup , CM000666.2:g.186194519dup | GRCh38 |
| NC_000004.11:g.187115673dup , CM000666.1:g.187115673dup | GRCh37 |
| NC_000004.10:g.187352667dup | NCBI36 |
| NG_007965.1:g.8000dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.234dup MANE Select | ENSP00000368079.4:p.Glu79Ter | |
| ENST00000378802.4:c.234dup | ENSP00000368079.4:p.Glu79Ter | |
| NM_207352.3:c.234dup | NP_997235.3:p.Glu79Ter | |
| XM_005262935.2:c.234dup | XP_005262992.1:p.Glu79Ter | |
| XM_005262935.4:c.234dup | XP_005262992.1:p.Glu79Ter | |
| XM_017008037.1:c.-77dup | XP_016863526.1:n.-77dup | |
| NM_207352.4:c.234dup MANE Select | NP_997235.3:p.Glu79Ter |