Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116923_19116924delinsAA , CM000669.2:g.19116923_19116924delinsAA | GRCh38 |
| NC_000007.13:g.19156546_19156547delinsAA , CM000669.1:g.19156546_19156547delinsAA | GRCh37 |
| NC_000007.12:g.19123071_19123072delinsAA | NCBI36 |
| NG_008114.1:g.5749_5750delinsTT | |
| NG_008114.2:g.5749_5750delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.398_399delinsTT MANE Select | ENSP00000242261.5:p.Lys133Ile | |
| ENST00000242261.5:c.398_399delinsTT | ENSP00000242261.5:p.Lys133Ile | |
| ENST00000354571.5:c.195_196delinsTT | ||
| ENST00000443687.5:c.1_2delinsTT | ||
| NM_000474.3:c.398_399delinsTT | NP_000465.1:p.Lys133Ile | |
| XM_011515496.1:c.398_399delinsTT | XP_011513798.1:p.Lys133Ile | |
| NR_149001.1:n.749_750delinsTT | ||
| NM_000474.4:c.398_399delinsTT MANE Select | NP_000465.1:p.Lys133Ile | |
| NR_149001.2:n.713_714delinsTT |