Linked Data
dbSNP Id:
rs748778600
ExAC:
4:120241825 CCT / C
gnomAD v2:
4-120241825-CCT-C
gnomAD v4:
4-119320670-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320671_119320672del , CM000666.2:g.119320671_119320672del | GRCh38 |
| NC_000004.11:g.120241826_120241827del , CM000666.1:g.120241826_120241827del | GRCh37 |
| NC_000004.10:g.120461274_120461275del | NCBI36 |
| NG_011444.1:g.6490_6491del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274024.4:c.238_239del MANE Select | ENSP00000274024.3:p.Arg80GlyfsTer6 | |
| ENST00000274024.3:c.238_239del | ENSP00000274024.3:p.Arg80GlyfsTer6 | |
| NM_000134.3:c.238_239del | NP_000125.2:p.Arg80GlyfsTer6 | |
| NM_000134.4:c.238_239del MANE Select | NP_000125.2:p.Arg80GlyfsTer6 |