Linked Data
ClinVar Variation Id:
300729
ClinVar RCV Id:
RCV000272975
dbSNP Id:
rs574159820
gnomAD v3:
10-73252599-ACCG-A
gnomAD v4:
10-73252599-ACCG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73252602_73252604del , CM000672.2:g.73252602_73252604del | GRCh38 |
| NC_000010.10:g.75012360_75012362del , CM000672.1:g.75012360_75012362del | GRCh37 |
| NC_000010.9:g.74682366_74682368del | NCBI36 |
| NG_008096.1:g.5092_5094del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.-120_-118del (MRPS16) MANE Select | ENSP00000362036.3:n.-120_-118del | |
| ENST00000372940.3:c.-120_-118del (MRPS16) | ENSP00000362031.3:n.-120_-118del | |
| ENST00000372945.7:c.-120_-118del (MRPS16) | ENSP00000362036.3:n.-120_-118del | |
| ENST00000473427.1:n.33_35del (MRPS16) | ||
| ENST00000479005.1:n.24_26del (MRPS16) | ||
| NM_016065.3:c.-120_-118del (MRPS16) | NP_057149.1:n.-120_-118del | |
| NR_038373.1:n.175+4152_175+4154del (DNAJC9-AS1) | ||
| XR_946059.1:n.121-589_121-587del | ||
| NM_016065.4:c.-120_-118del (MRPS16) MANE Select | NP_057149.1:n.-120_-118del |