Linked Data
gnomAD v4:
12-49950939-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49950942del , CM000674.2:g.49950942del | GRCh38 |
| NC_000012.11:g.50344725del , CM000674.1:g.50344725del | GRCh37 |
| NC_000012.10:g.48630992del | NCBI36 |
| NG_008913.1:g.5202del , LRG_717:g.5202del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.112del MANE Select | ENSP00000199280.3:p.Leu38CysfsTer25 | |
| ENST00000199280.3:c.112del | ENSP00000199280.3:p.Leu38CysfsTer25 | |
| ENST00000550862.1:c.112del | ENSP00000450022.1:p.Leu38CysfsTer25 | |
| ENST00000551526.5:c.112del | ENSP00000447148.1:p.Leu38CysfsTer25 | |
| NM_000486.5:c.112del , LRG_717t1:c.112del | NP_000477.1:p.Leu38CysfsTer25 | |
| NM_000486.6:c.112del MANE Select | NP_000477.1:p.Leu38CysfsTer25 |