Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215648712_215648715del , CM000663.2:g.215648712_215648715del | GRCh38 |
| NC_000001.10:g.215822054_215822057del , CM000663.1:g.215822054_215822057del | GRCh37 |
| NC_000001.9:g.213888677_213888680del | NCBI36 |
| NG_009497.1:g.779686_779689del | |
| NG_009497.2:g.779738_779741del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.14399_14402del MANE Select | NP_996816.3:p.Asn4800ThrfsTer5 |
| ENST00000307340.8:c.14399_14402del MANE Select | ENSP00000305941.3:p.Asn4800ThrfsTer5 |
| NM_206933.2:c.14399_14402del | NP_996816.2:p.Asn4800ThrfsTer5 |
| NM_206933.3:c.14399_14402del | NP_996816.2:p.Asn4800ThrfsTer5 |
| ENST00000307340.7:c.14399_14402del | ENSP00000305941.3:p.Asn4800ThrfsTer5 |
| ENST00000674083.1:c.14399_14402del | ENSP00000501296.1:p.Asn4800ThrfsTer5 |