Linked Data
gnomAD v4:
5-135029057-TGGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135029062_135029064del , CM000667.2:g.135029062_135029064del | GRCh38 |
| NC_000005.9:g.134364752_134364754del , CM000667.1:g.134364752_134364754del | GRCh37 |
| NC_000005.8:g.134392651_134392653del | NCBI36 |
| NG_012114.1:g.10215_10217del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.664_666del MANE Select | ENSP00000265340.6:p.Ser222del | |
| ENST00000265340.11:c.664_666del | ENSP00000265340.6:p.Ser222del | |
| ENST00000506438.5:c.664_666del | ENSP00000427542.1:p.Ser222del | |
| NM_002653.4:c.664_666del | NP_002644.4:p.Ser222del | |
| NM_002653.5:c.664_666del MANE Select | NP_002644.4:p.Ser222del |