Linked Data
gnomAD v4:
12-21176788-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176791del , CM000674.2:g.21176791del | GRCh38 |
| NC_000012.11:g.21329725del , CM000674.1:g.21329725del | GRCh37 |
| NC_000012.10:g.21220992del | NCBI36 |
| NG_011745.1:g.50598del , LRG_1022:g.50598del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256958.3:c.375del MANE Select | ENSP00000256958.2:p.Glu126LysfsTer18 | |
| ENST00000256958.2:c.375del | ENSP00000256958.2:p.Glu126LysfsTer18 | |
| ENST00000543498.5:c.441del | ||
| NM_006446.4:c.375del , LRG_1022t1:c.375del | NP_006437.3:p.Glu126LysfsTer18 | |
| NM_006446.5:c.375del MANE Select | NP_006437.3:p.Glu126LysfsTer18 |