Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659782_31659783delinsTT , CM000683.2:g.31659782_31659783delinsTT | GRCh38 |
| NC_000021.8:g.33032095_33032096delinsTT , CM000683.1:g.33032095_33032096delinsTT | GRCh37 |
| NC_000021.7:g.31953966_31953967delinsTT | NCBI36 |
| NG_008689.1:g.5161_5162delinsTT , LRG_652:g.5161_5162delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.13_14delinsTT MANE Select | ENSP00000270142.7:p.Ala5Phe | |
| ENST00000270142.10:c.13_14delinsTT | ENSP00000270142.6:p.Ala5Phe | |
| ENST00000389995.4:c.13_14delinsTT | ENSP00000374645.4:p.Ala5Phe | |
| ENST00000470944.1:n.74_75delinsTT | ||
| ENST00000476106.5:n.90_91delinsTT | ||
| NM_000454.4:c.13_14delinsTT , LRG_652t1:c.13_14delinsTT | NP_000445.1:p.Ala5Phe | |
| NM_000454.5:c.13_14delinsTT MANE Select | NP_000445.1:p.Ala5Phe |