Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904080_154904081delinsCA , CM000685.2:g.154904080_154904081delinsCA | GRCh38 |
| NC_000023.10:g.154132355_154132356delinsCA , CM000685.1:g.154132355_154132356delinsCA | GRCh37 |
| NC_000023.9:g.153785549_153785550delinsCA | NCBI36 |
| NG_011403.1:g.123643_123644delinsTG | |
| NG_011403.2:g.123643_123644delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5823_5824delinsTG MANE Select | ENSP00000353393.4:p.Asn1941= | |
| ENST00000360256.8:c.5823_5824delinsTG | ENSP00000353393.4:p.Asn1941= | |
| NM_000132.3:c.5823_5824delinsTG | NP_000123.1:p.Asn1941= | |
| XM_011531126.1:c.5718_5719delinsTG | XP_011529428.1:p.Asn1906= | |
| NM_000132.4:c.5823_5824delinsTG MANE Select | NP_000123.1:p.Asn1941= |