Linked Data
gnomAD v4:
1-159886617-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159886619del , CM000663.2:g.159886619del | GRCh38 |
| NC_000001.10:g.159856409del , CM000663.1:g.159856409del | GRCh37 |
| NC_000001.9:g.158123033del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368099.9:c.660del MANE Select | ENSP00000357079.4:p.Glu220AspfsTer12 | |
| ENST00000368099.8:c.660del | ENSP00000357079.4:p.Glu220AspfsTer12 | |
| ENST00000426543.6:c.405del | ENSP00000403044.2:p.Glu135AspfsTer12 | |
| ENST00000476696.5:c.660del | ENSP00000483972.1:p.Glu220AspfsTer12 | |
| ENST00000479940.2:c.405del | ENSP00000478944.1:p.Glu135AspfsTer? | |
| NM_012337.2:c.660del | NP_036469.2:p.Glu220AspfsTer12 | |
| NM_012337.3:c.660del MANE Select | NP_036469.2:p.Glu220AspfsTer12 |