Linked Data
gnomAD v4:
22-32475114-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32475119del , CM000684.2:g.32475119del | GRCh38 |
| NC_000022.10:g.32871106del , CM000684.1:g.32871106del | GRCh37 |
| NC_000022.9:g.31201106del | NCBI36 |
| NG_016001.1:g.5400del | |
| NG_016001.2:g.5400del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.117del MANE Select | ENSP00000266087.7:p.Tyr40ThrfsTer11 | |
| ENST00000266087.11:c.117del | ENSP00000266087.7:p.Tyr40ThrfsTer11 | |
| ENST00000420700.5:c.117del | ENSP00000406155.1:p.Tyr40ThrfsTer5 | |
| ENST00000425028.5:c.117del | ENSP00000395823.1:p.Tyr40ThrfsTer? | |
| ENST00000492535.1:n.105del | ||
| NM_012179.3:c.117del | NP_036311.3:p.Tyr40ThrfsTer11 | |
| XM_011530106.1:c.-57del | XP_011528408.1:n.-57del | |
| XM_024452207.1:c.-74del | XP_024307975.1:n.-74del | |
| NM_012179.4:c.117del MANE Select | NP_036311.3:p.Tyr40ThrfsTer11 |