Linked Data
gnomAD v4:
17-42184497-AGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184498_42184499del , CM000679.2:g.42184498_42184499del | GRCh38 |
| NC_000017.10:g.40336516_40336517del , CM000679.1:g.40336516_40336517del | GRCh37 |
| NC_000017.9:g.37590042_37590043del | NCBI36 |
| NG_011448.1:g.5954_5955del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.51_52del MANE Select | ENSP00000293330.1:p.Leu18AlafsTer? | |
| NM_001524.1:c.51_52del MANE Select | NP_001515.1:p.Leu18AlafsTer? |