Linked Data
dbSNP Id:
rs752592154
ExAC:
5:137206425 TC / T
gnomAD v2:
5-137206425-TC-T
gnomAD v4:
5-137870736-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137870738del , CM000667.2:g.137870738del | GRCh38 |
| NC_000005.9:g.137206427del , CM000667.1:g.137206427del | GRCh37 |
| NC_000005.8:g.137234326del | NCBI36 |
| NG_008894.1:g.7883del , LRG_201:g.7883del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239926.9:c.87del (MYOT) MANE Select | ENSP00000239926.4:p.Ser30AlafsTer29 | |
| ENST00000239926.8:c.87del (MYOT) | ENSP00000239926.4:p.Ser30AlafsTer29 | |
| ENST00000421631.6:c.-197+213del (MYOT) | ENSP00000391185.2:n.-197+213del | |
| ENST00000509812.5:n.179+213del (MYOT) | ||
| ENST00000511625.5:n.179+213del (MYOT) | ||
| ENST00000515645.1:c.-120-139del (MYOT) | ENSP00000426281.1:n.-120-139del | |
| NM_001135940.1:c.-197+213del (MYOT) | NP_001129412.1:n.-197+213del | |
| NM_001300911.1:c.-120-139del (MYOT) | NP_001287840.1:n.-120-139del | |
| NM_006790.2:c.87del , LRG_201t1:c.87del (MYOT) | NP_006781.1:p.Ser30AlafsTer29 | |
| XR_948815.1:n.220-11474del (PKD2L2-DT) | ||
| XR_948816.1:n.58-11474del (PKD2L2-DT) | ||
| XM_017010060.1:c.-355-139del (MYOT) | XP_016865549.1:n.-355-139del | |
| XM_017010061.1:c.-494del (MYOT) | XP_016865550.1:n.-494del | |
| XM_017010062.1:c.-225+213del (MYOT) | XP_016865551.1:n.-225+213del | |
| XR_948815.2:n.347-11474del (PKD2L2-DT) | ||
| NM_001135940.2:c.-197+213del (MYOT) | NP_001129412.1:n.-197+213del | |
| NM_001300911.2:c.-120-139del (MYOT) | NP_001287840.1:n.-120-139del | |
| NM_006790.3:c.87del (MYOT) MANE Select | NP_006781.1:p.Ser30AlafsTer29 |