Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659789_31659790delinsTT , CM000683.2:g.31659789_31659790delinsTT | GRCh38 |
| NC_000021.8:g.33032102_33032103delinsTT , CM000683.1:g.33032102_33032103delinsTT | GRCh37 |
| NC_000021.7:g.31953973_31953974delinsTT | NCBI36 |
| NG_008689.1:g.5168_5169delinsTT , LRG_652:g.5168_5169delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.20_21delinsTT MANE Select | ENSP00000270142.7:p.Cys7Phe | |
| ENST00000270142.10:c.20_21delinsTT | ENSP00000270142.6:p.Cys7Phe | |
| ENST00000389995.4:c.15+5_15+6delinsTT | ENSP00000374645.4:n.15+5_15+6delinsTT | |
| ENST00000470944.1:n.81_82delinsTT | ||
| ENST00000476106.5:n.97_98delinsTT | ||
| NM_000454.4:c.20_21delinsTT , LRG_652t1:c.20_21delinsTT | NP_000445.1:p.Cys7Phe | |
| NM_000454.5:c.20_21delinsTT MANE Select | NP_000445.1:p.Cys7Phe |