Linked Data
gnomAD v4:
16-8797612-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797613del , CM000678.2:g.8797613del | GRCh38 |
| NC_000016.9:g.8891470del , CM000678.1:g.8891470del | GRCh37 |
| NC_000016.8:g.8798971del | NCBI36 |
| NG_009209.1:g.4801del | |
| NG_033146.1:g.5036del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333050.7:c.2del (TMEM186) MANE Select | ENSP00000331640.6:p.Met1ArgfsTer? | |
| ENST00000333050.6:c.2del (TMEM186) | ENSP00000331640.6:p.Met1ArgfsTer? | |
| ENST00000564869.1:n.30del (TMEM186) | ||
| ENST00000566983.5:c.-15-4186del (PMM2) | ENSP00000457956.1:n.-15-4186del | |
| NM_015421.3:c.2del (TMEM186) | NP_056236.2:p.Met1ArgfsTer? | |
| NM_015421.4:c.2del (TMEM186) MANE Select | NP_056236.2:p.Met1ArgfsTer? |