Linked Data
dbSNP Id:
rs1564725635
gnomAD v2:
10-75009201-GAAGT-G
gnomAD v3:
10-73249443-GAAGT-G
gnomAD v4:
10-73249443-GAAGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73249446_73249449del , CM000672.2:g.73249446_73249449del | GRCh38 |
| NC_000010.10:g.75009204_75009207del , CM000672.1:g.75009204_75009207del | GRCh37 |
| NC_000010.9:g.74679210_74679213del | NCBI36 |
| NG_008096.1:g.8247_8250del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.*1405_*1408del (MRPS16) MANE Select | ENSP00000362036.3:n.*1405_*1408del | |
| ENST00000372940.3:c.275-129_275-126del (MRPS16) | ENSP00000362031.3:n.275-129_275-126del | |
| ENST00000372945.7:c.*1405_*1408del (MRPS16) | ENSP00000362036.3:n.*1405_*1408del | |
| ENST00000479005.1:n.1976_1979del (MRPS16) | ||
| NM_016065.3:c.*1405_*1408del (MRPS16) | NP_057149.1:n.*1405_*1408del | |
| NR_038373.1:n.175+996_175+999del (DNAJC9-AS1) | ||
| NM_016065.4:c.*1405_*1408del (MRPS16) MANE Select | NP_057149.1:n.*1405_*1408del |