Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797616_8797617delinsGC , CM000678.2:g.8797616_8797617delinsGC | GRCh38 |
| NC_000016.9:g.8891473_8891474delinsGC , CM000678.1:g.8891473_8891474delinsGC | GRCh37 |
| NC_000016.8:g.8798974_8798975delinsGC | NCBI36 |
| NG_009209.1:g.4804_4805delinsGC | |
| NG_033146.1:g.5032_5033delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333050.7:c.-3_-2delinsGC (TMEM186) MANE Select | ENSP00000331640.6:n.-3_-2delinsGC | |
| ENST00000333050.6:c.-3_-2delinsGC (TMEM186) | ENSP00000331640.6:n.-3_-2delinsGC | |
| ENST00000564869.1:n.26_27delinsGC (TMEM186) | ||
| ENST00000566983.5:c.-15-4183_-15-4182delinsGC (PMM2) | ENSP00000457956.1:n.-15-4183_-15-4182delinsGC | |
| NM_015421.3:c.-3_-2delinsGC (TMEM186) | NP_056236.2:n.-3_-2delinsGC | |
| NM_015421.4:c.-3_-2delinsGC (TMEM186) MANE Select | NP_056236.2:n.-3_-2delinsGC |