Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116942_19116943delinsTT , CM000669.2:g.19116942_19116943delinsTT | GRCh38 |
| NC_000007.13:g.19156565_19156566delinsTT , CM000669.1:g.19156565_19156566delinsTT | GRCh37 |
| NC_000007.12:g.19123090_19123091delinsTT | NCBI36 |
| NG_008114.1:g.5730_5731delinsAA | |
| NG_008114.2:g.5730_5731delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.379_380delinsAA MANE Select | ENSP00000242261.5:p.Ala127Lys | |
| ENST00000242261.5:c.379_380delinsAA | ENSP00000242261.5:p.Ala127Lys | |
| ENST00000354571.5:c.176_177delinsAA | ||
| NM_000474.3:c.379_380delinsAA | NP_000465.1:p.Ala127Lys | |
| XM_011515496.1:c.379_380delinsAA | XP_011513798.1:p.Ala127Lys | |
| NR_149001.1:n.730_731delinsAA | ||
| NM_000474.4:c.379_380delinsAA MANE Select | NP_000465.1:p.Ala127Lys | |
| NR_149001.2:n.694_695delinsAA |