Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732958_115732965delinsTTCAAAAG , CM000663.2:g.115732958_115732965delinsTTCAAAAG | GRCh38 |
| NC_000001.10:g.116275579_116275586delinsTTCAAAAG , CM000663.1:g.116275579_116275586delinsTTCAAAAG | GRCh37 |
| NC_000001.9:g.116077102_116077109delinsTTCAAAAG | NCBI36 |
| NG_008802.1:g.40841_40848delinsCTTTTGAA , LRG_404:g.40841_40848delinsCTTTTGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.266_273delinsCTTTTGAA | ENSP00000518226.1:p.Ala89= | |
| ENST00000261448.6:c.542_549delinsCTTTTGAA MANE Select | ENSP00000261448.5:p.Ala181= | |
| ENST00000261448.5:c.542_549delinsCTTTTGAA | ENSP00000261448.5:p.Ala181= | |
| NM_001232.3:c.542_549delinsCTTTTGAA , LRG_404t1:c.542_549delinsCTTTTGAA | NP_001223.2:p.Ala181= | |
| NM_001232.4:c.542_549delinsCTTTTGAA MANE Select | NP_001223.2:p.Ala181= |