Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116965_19116966delinsGG , CM000669.2:g.19116965_19116966delinsGG | GRCh38 |
| NC_000007.13:g.19156588_19156589delinsGG , CM000669.1:g.19156588_19156589delinsGG | GRCh37 |
| NC_000007.12:g.19123113_19123114delinsGG | NCBI36 |
| NG_008114.1:g.5707_5708delinsCC | |
| NG_008114.2:g.5707_5708delinsCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242261.6:c.356_357delinsCC MANE Select | ENSP00000242261.5:p.Gln119Pro | |
| ENST00000242261.5:c.356_357delinsCC | ENSP00000242261.5:p.Gln119Pro | |
| ENST00000354571.5:c.153_154delinsCC | ||
| NM_000474.3:c.356_357delinsCC | NP_000465.1:p.Gln119Pro | |
| XM_011515496.1:c.356_357delinsCC | XP_011513798.1:p.Gln119Pro | |
| NR_149001.1:n.707_708delinsCC | ||
| NM_000474.4:c.356_357delinsCC MANE Select | NP_000465.1:p.Gln119Pro | |
| NR_149001.2:n.671_672delinsCC |