Linked Data
gnomAD v4:
17-39665800-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665801del , CM000679.2:g.39665801del | GRCh38 |
| NC_000017.10:g.37822054del , CM000679.1:g.37822054del | GRCh37 |
| NC_000017.9:g.35075580del | NCBI36 |
| NG_008892.1:g.5456del , LRG_210:g.5456del | |
| NG_042278.1:g.2821del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.196del MANE Select | ENSP00000312624.2:p.Trp66GlyfsTer2 | |
| ENST00000309889.2:c.196del | ENSP00000312624.2:p.Trp66GlyfsTer2 | |
| ENST00000578283.1:c.174+22del | ENSP00000462787.1:n.174+22del | |
| NM_003673.3:c.196del , LRG_210t1:c.196del | NP_003664.1:p.Trp66GlyfsTer2 | |
| NM_003673.4:c.196del MANE Select | NP_003664.1:p.Trp66GlyfsTer2 |