Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21743788del , CM000685.2:g.21743788del | GRCh38 |
| NC_000023.10:g.21761906del , CM000685.1:g.21761906del | GRCh37 |
| NC_000023.9:g.21671827del | NCBI36 |
| NG_031916.1:g.19378del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014332.3:c.99del MANE Select | NP_055147.1:p.Arg34GlufsTer? |
| ENST00000379494.4:c.99del MANE Select | ENSP00000368808.3:p.Arg34GlufsTer? |
| NM_014332.2:c.99del | NP_055147.1:p.Arg34GlufsTer? |
| NR_045617.1:n.330del | |
| NR_045617.2:n.286del | |
| ENST00000379494.3:c.99del | ENSP00000368808.3:p.Arg34GlufsTer? |
| ENST00000494525.1:n.192del | |
| ENST00000646008.1:c.99del | ENSP00000493671.1:p.Arg34GlufsTer? |