Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797585_8797620del , CM000678.2:g.8797585_8797620del | GRCh38 |
| NC_000016.9:g.8891442_8891477del , CM000678.1:g.8891442_8891477del | GRCh37 |
| NC_000016.8:g.8798943_8798978del | NCBI36 |
| NG_009209.1:g.4773_4808del | |
| NG_033146.1:g.5033_5068del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333050.7:c.-2_3+31del (TMEM186) | ||
| ENST00000333050.6:c.-2_3+31del (TMEM186) | ||
| ENST00000564869.1:n.27_31+31del (TMEM186) | ||
| ENST00000566983.5:c.-15-4214_-15-4179del (PMM2) | ENSP00000457956.1:n.-15-4214_-15-4179del | |
| NM_015421.3:c.-2_3+31del (TMEM186) | ||
| NM_015421.4:c.-2_3+31del (TMEM186) |