Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965871del , CM000670.2:g.37965871del | GRCh38 |
| NC_000008.10:g.37823389del , CM000670.1:g.37823389del | GRCh37 |
| NC_000008.9:g.37942546del | NCBI36 |
| NG_011936.1:g.5797del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.600del MANE Select | NP_000016.1:p.Asn201ThrfsTer19 |
| ENST00000345060.5:c.600del MANE Select | ENSP00000343782.3:p.Asn201ThrfsTer19 |
| NM_000025.2:c.600del | NP_000016.1:p.Asn201ThrfsTer19 |
| ENST00000345060.4:c.600del | ENSP00000343782.3:p.Asn201ThrfsTer19 |
| ENST00000520341.2:n.728del | |
| ENST00000614635.1:c.600del | ENSP00000480325.1:p.Asn201ThrfsTer19 |
| ENST00000647937.1:c.84del | ENSP00000497740.1:p.Asn29ThrfsTer19 |