Linked Data
gnomAD v4:
1-114713734-CTCATTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713735_114713740del , CM000663.2:g.114713735_114713740del | GRCh38 |
| NC_000001.10:g.115256356_115256361del , CM000663.1:g.115256356_115256361del | GRCh37 |
| NC_000001.9:g.115057879_115057884del | NCBI36 |
| NG_007572.1:g.8155_8160del , LRG_92:g.8155_8160del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.290+60_290+65del MANE Select | ENSP00000358548.4:n.290+60_290+65del | |
| ENST00000369535.4:c.290+60_290+65del | ENSP00000358548.4:n.290+60_290+65del | |
| NM_002524.4:c.290+60_290+65del | NP_002515.1:n.290+60_290+65del | |
| NM_002524.5:c.290+60_290+65del MANE Select | NP_002515.1:n.290+60_290+65del |