Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965575_37965576del , CM000670.2:g.37965575_37965576del | GRCh38 |
| NC_000008.10:g.37823093_37823094del , CM000670.1:g.37823093_37823094del | GRCh37 |
| NC_000008.9:g.37942250_37942251del | NCBI36 |
| NG_011936.1:g.6092_6093del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.895_896del MANE Select | ENSP00000343782.3:p.Gly299HisfsTer? | |
| ENST00000520341.2:n.1023_1024del | ||
| ENST00000647937.1:c.379_380del | ENSP00000497740.1:p.Gly127HisfsTer? | |
| ENST00000345060.4:c.895_896del | ENSP00000343782.3:p.Gly299HisfsTer? | |
| ENST00000520341.1:n.170_171del | ||
| ENST00000614635.1:c.895_896del | ENSP00000480325.1:p.Gly299HisfsTer? | |
| NM_000025.2:c.895_896del | NP_000016.1:p.Gly299HisfsTer? | |
| NM_000025.3:c.895_896del MANE Select | NP_000016.1:p.Gly299HisfsTer? |