Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94401529_94401531delinsTTA , CM000669.2:g.94401529_94401531delinsTTA | GRCh38 |
| NC_000007.13:g.94030841_94030843delinsTTA , CM000669.1:g.94030841_94030843delinsTTA | GRCh37 |
| NC_000007.12:g.93868777_93868779delinsTTA | NCBI36 |
| NG_007405.1:g.11969_11971delinsTTA , LRG_2:g.11969_11971delinsTTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.226-38_226-36delinsTTA MANE Select | ENSP00000297268.6:n.226-38_226-36delinsTTA | |
| ENST00000297268.10:c.226-38_226-36delinsTTA | ENSP00000297268.6:n.226-38_226-36delinsTTA | |
| ENST00000620463.1:c.220-38_220-36delinsTTA | ENSP00000477719.1:n.220-38_220-36delinsTTA | |
| NM_000089.3:c.226-38_226-36delinsTTA , LRG_2t1:c.226-38_226-36delinsTTA | NP_000080.2:n.226-38_226-36delinsTTA | |
| NM_000089.4:c.226-38_226-36delinsTTA MANE Select | NP_000080.2:n.226-38_226-36delinsTTA |