Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966104_37966105insCCA , CM000670.2:g.37966104_37966105insCCA | GRCh38 |
| NC_000008.10:g.37823622_37823623insCCA , CM000670.1:g.37823622_37823623insCCA | GRCh37 |
| NC_000008.9:g.37942779_37942780insCCA | NCBI36 |
| NG_011936.1:g.5562_5563insTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.365_366insTGG MANE Select | ENSP00000343782.3:p.Thr122_Ala123insGly | |
| ENST00000520341.2:n.493_494insTGG | ||
| ENST00000345060.4:c.365_366insTGG | ENSP00000343782.3:p.Thr122_Ala123insGly | |
| ENST00000614635.1:c.365_366insTGG | ENSP00000480325.1:p.Thr122_Ala123insGly | |
| NM_000025.2:c.365_366insTGG | NP_000016.1:p.Thr122_Ala123insGly | |
| NM_000025.3:c.365_366insTGG MANE Select | NP_000016.1:p.Thr122_Ala123insGly |