Linked Data
gnomAD v4:
11-55812014-CTGTCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55812016_55812020del , CM000673.2:g.55812016_55812020del | GRCh38 |
| NC_000011.9:g.55579492_55579496del , CM000673.1:g.55579492_55579496del | GRCh37 |
| NC_000011.8:g.55336068_55336072del | NCBI36 |
| NG_052620.1:g.5650_5654del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625203.2:c.550_554del MANE Select | ENSP00000485319.1:p.Val184LysfsTer6 | |
| ENST00000333973.3:c.550_554del | ENSP00000335529.2:p.Val184LysfsTer6 | |
| ENST00000623450.1:c.550_554del | ENSP00000485509.1:p.Val184LysfsTer6 | |
| ENST00000625203.1:c.550_554del | ENSP00000485319.1:p.Val184LysfsTer6 | |
| NM_001004738.1:c.550_554del | NP_001004738.1:p.Val184LysfsTer6 | |
| NM_001004738.2:c.550_554del MANE Select | NP_001004738.1:p.Val184LysfsTer6 |