Linked Data
gnomAD v4:
16-8797620-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797621dup , CM000678.2:g.8797621dup | GRCh38 |
| NC_000016.9:g.8891478dup , CM000678.1:g.8891478dup | GRCh37 |
| NC_000016.8:g.8798979dup | NCBI36 |
| NG_009209.1:g.4809dup | |
| NG_033146.1:g.5028dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333050.7:c.-7dup (TMEM186) MANE Select | ENSP00000331640.6:n.-7dup | |
| ENST00000333050.6:c.-7dup (TMEM186) | ENSP00000331640.6:n.-7dup | |
| ENST00000564869.1:n.22dup (TMEM186) | ||
| ENST00000566983.5:c.-15-4178dup (PMM2) | ENSP00000457956.1:n.-15-4178dup | |
| NM_015421.3:c.-7dup (TMEM186) | NP_056236.2:n.-7dup | |
| NM_015421.4:c.-7dup (TMEM186) MANE Select | NP_056236.2:n.-7dup |