Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88007773_88007774delinsGA , CM000666.2:g.88007773_88007774delinsGA | GRCh38 |
| NC_000004.11:g.88928925_88928926delinsGA , CM000666.1:g.88928925_88928926delinsGA | GRCh37 |
| NC_000004.10:g.89147949_89147950delinsGA | NCBI36 |
| NG_008604.1:g.5106_5107delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.40_41delinsGA MANE Select | ENSP00000237596.2:p.Asp14= | |
| ENST00000237596.6:c.40_41delinsGA | ENSP00000237596.2:p.Asp14= | |
| NM_000297.3:c.40_41delinsGA | NP_000288.1:p.Asp14= | |
| XM_011532028.1:c.40_41delinsGA | XP_011530330.1:p.Asp14= | |
| XR_244632.2:n.135_136delinsGA | ||
| NR_156488.1:n.127_128delinsGA | ||
| XM_011532028.2:c.40_41delinsGA | XP_011530330.1:p.Asp14= | |
| NM_000297.4:c.40_41delinsGA MANE Select | NP_000288.1:p.Asp14= | |
| NR_156488.2:n.139_140delinsGA |