Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19957690_19957693delinsTTTG , CM000670.2:g.19957690_19957693delinsTTTG | GRCh38 |
| NC_000008.10:g.19815201_19815204delinsTTTG , CM000670.1:g.19815201_19815204delinsTTTG | GRCh37 |
| NC_000008.9:g.19859481_19859484delinsTTTG | NCBI36 |
| NG_008855.1:g.23620_23623delinsTTTG | |
| NG_008855.2:g.60974_60977delinsTTTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1019-1570_1019-1567delinsTTTG MANE Select | ENSP00000497642.1:n.1019-1570_1019-1567de... | |
| ENST00000650478.1:c.79+1607_79+1610delinsTTTG | ENSP00000497560.1:n.79+1607_79+1610delins... | |
| ENST00000311322.8:c.1019-1570_1019-1567delinsTTTG | ENSP00000309757.6:n.1019-1570_1019-1567de... | |
| NM_000237.2:c.1019-1570_1019-1567delinsTTTG | NP_000228.1:n.1019-1570_1019-1567delinsTT... | |
| NM_000237.3:c.1019-1570_1019-1567delinsTTTG MANE Select | NP_000228.1:n.1019-1570_1019-1567delinsTT... |