Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127854290del , CM000671.2:g.127854290del | GRCh38 |
| NC_000009.11:g.130616569del , CM000671.1:g.130616569del | GRCh37 |
| NC_000009.10:g.129656390del | NCBI36 |
| NG_009551.1:g.5480del , LRG_589:g.5480del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373203.9:c.67del MANE Select | ENSP00000362299.4:p.Ser23ValfsTer20 | |
| ENST00000344849.4:c.67del | ENSP00000341917.3:p.Ser23ValfsTer20 | |
| ENST00000373203.8:c.67del | ENSP00000362299.4:p.Ser23ValfsTer20 | |
| NM_000118.3:c.67del , LRG_589t1:c.67del | NP_000109.1:p.Ser23ValfsTer20 | |
| NM_001114753.2:c.67del , LRG_589t2:c.67del | NP_001108225.1:p.Ser23ValfsTer20 | |
| NM_001114753.3:c.67del MANE Select | NP_001108225.1:p.Ser23ValfsTer20 |