Linked Data
gnomAD v4:
16-8797593-TCG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797595_8797596del , CM000678.2:g.8797595_8797596del | GRCh38 |
| NC_000016.9:g.8891452_8891453del , CM000678.1:g.8891452_8891453del | GRCh37 |
| NC_000016.8:g.8798953_8798954del | NCBI36 |
| NG_009209.1:g.4783_4784del | |
| NG_033146.1:g.5054_5055del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333050.7:c.3+17_3+18del (TMEM186) MANE Select | ENSP00000331640.6:n.3+17_3+18del | |
| ENST00000333050.6:c.3+17_3+18del (TMEM186) | ENSP00000331640.6:n.3+17_3+18del | |
| ENST00000564869.1:n.31+17_31+18del (TMEM186) | ||
| ENST00000566983.5:c.-15-4204_-15-4203del (PMM2) | ENSP00000457956.1:n.-15-4204_-15-4203del | |
| NM_015421.3:c.3+17_3+18del (TMEM186) | NP_056236.2:n.3+17_3+18del | |
| NM_015421.4:c.3+17_3+18del (TMEM186) MANE Select | NP_056236.2:n.3+17_3+18del |