Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154997002del , CM000685.2:g.154997002del | GRCh38 |
| NC_000023.10:g.154225277del , CM000685.1:g.154225277del | GRCh37 |
| NC_000023.9:g.153878471del | NCBI36 |
| NG_011403.1:g.30723del | |
| NG_011403.2:g.30723del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.360del MANE Select | ENSP00000353393.4:p.Gly121ValfsTer? | |
| ENST00000647125.1:c.*146del | ENSP00000496062.1:n.*146del | |
| ENST00000360256.8:c.360del | ENSP00000353393.4:p.Gly121ValfsTer? | |
| ENST00000423959.5:c.255del | ENSP00000409446.1:p.Gly86ValfsTer? | |
| ENST00000453950.1:c.342del | ENSP00000389153.1:p.Gly115ValfsTer? | |
| NM_000132.3:c.360del | NP_000123.1:p.Gly121ValfsTer? | |
| XM_011531126.1:c.255del | XP_011529428.1:p.Gly86ValfsTer? | |
| NM_000132.4:c.360del MANE Select | NP_000123.1:p.Gly121ValfsTer? |