Linked Data
gnomAD v4:
17-61590750-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590751_61590752del , CM000679.2:g.61590751_61590752del | GRCh38 |
| NC_000017.10:g.59668112_59668113del , CM000679.1:g.59668112_59668113del | GRCh37 |
| NC_000017.9:g.57022894_57022895del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.429_430del MANE Select | ENSP00000427802.1:p.Phe143LeufsTer5 | |
| ENST00000521764.2:c.429_430del | ENSP00000427802.1:p.Phe143LeufsTer5 | |
| NM_199290.3:c.429_430del | NP_954984.1:p.Phe143LeufsTer5 | |
| NM_199290.4:c.429_430del MANE Select | NP_954984.1:p.Phe143LeufsTer5 |