Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994894_178994895del , CM000667.2:g.178994894_178994895del | GRCh38 |
| NC_000005.9:g.178421895_178421896del , CM000667.1:g.178421895_178421896del | GRCh37 |
| NC_000005.8:g.178354501_178354502del | NCBI36 |
| NG_008105.1:g.5230_5231del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.51_52del MANE Select | ENSP00000430767.1:p.Leu18GlyfsTer? | |
| ENST00000650031.1:c.51_52del | ENSP00000497110.1:p.Leu18GlyfsTer? | |
| ENST00000231188.9:c.51_52del | ENSP00000231188.5:p.Leu18GlyfsTer? | |
| ENST00000517717.1:c.51_52del | ENSP00000430767.1:p.Leu18GlyfsTer? | |
| NM_000843.3:c.51_52del | NP_000834.2:p.Leu18GlyfsTer? | |
| NM_000843.4:c.51_52del MANE Select | NP_000834.2:p.Leu18GlyfsTer? |