Linked Data
gnomAD v4:
1-114713878-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713879dup , CM000663.2:g.114713879dup | GRCh38 |
| NC_000001.10:g.115256500dup , CM000663.1:g.115256500dup | GRCh37 |
| NC_000001.9:g.115058023dup | NCBI36 |
| NG_007572.1:g.8016dup , LRG_92:g.8016dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.211dup MANE Select | ENSP00000358548.4:p.Tyr71LeufsTer16 | |
| ENST00000369535.4:c.211dup | ENSP00000358548.4:p.Tyr71LeufsTer16 | |
| NM_002524.4:c.211dup | NP_002515.1:p.Tyr71LeufsTer16 | |
| NM_002524.5:c.211dup MANE Select | NP_002515.1:p.Tyr71LeufsTer16 |