Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177080_177087delinsTGCA , CM000678.2:g.177080_177087delinsTGCA | GRCh38 |
| NC_000016.9:g.227079_227086delinsTGCA , CM000678.1:g.227079_227086delinsTGCA | GRCh37 |
| NC_000016.8:g.167079_167086delinsTGCA | NCBI36 |
| NG_000006.1:g.37943_37950delinsTGCA | |
| NG_059186.1:g.5430_5437delinsTGCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.247_254delinsTGCA MANE Select | ENSP00000322421.5:p.Ala83CysfsTer19 | |
| ENST00000397797.1:c.151_158delinsTGCA | ENSP00000380899.1:p.Ala51CysfsTer19 | |
| ENST00000472694.1:n.383_390delinsTGCA | ||
| ENST00000487791.1:n.216_223delinsTGCA | ||
| NM_000558.4:c.247_254delinsTGCA | NP_000549.1:p.Ala83CysfsTer19 | |
| NM_000558.5:c.247_254delinsTGCA MANE Select | NP_000549.1:p.Ala83CysfsTer19 |