Linked Data
gnomAD v4:
1-114713752-TTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713753_114713754del , CM000663.2:g.114713753_114713754del | GRCh38 |
| NC_000001.10:g.115256374_115256375del , CM000663.1:g.115256374_115256375del | GRCh37 |
| NC_000001.9:g.115057897_115057898del | NCBI36 |
| NG_007572.1:g.8141_8142del , LRG_92:g.8141_8142del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.290+46_290+47del MANE Select | ENSP00000358548.4:n.290+46_290+47del | |
| ENST00000369535.4:c.290+46_290+47del | ENSP00000358548.4:n.290+46_290+47del | |
| NM_002524.4:c.290+46_290+47del | NP_002515.1:n.290+46_290+47del | |
| NM_002524.5:c.290+46_290+47del MANE Select | NP_002515.1:n.290+46_290+47del |