Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30914104del , CM000668.2:g.30914104del | GRCh38 |
| NC_000006.11:g.30881881del , CM000668.1:g.30881881del | GRCh37 |
| NC_000006.10:g.30989860del | NCBI36 |
| NG_034224.1:g.4897del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259895.9:c.*121del (GTF2H4) MANE Select | ENSP00000259895.4:n.*121del | |
| ENST00000259895.8:c.*121del (GTF2H4) | ENSP00000259895.4:n.*121del | |
| ENST00000376316.5:c.*121del (GTF2H4) | ENSP00000365493.2:n.*121del | |
| ENST00000475845.1:n.657del (GTF2H4) | ||
| ENST00000477288.5:n.1856del (VARS2) | ||
| ENST00000483318.5:n.1080del (GTF2H4) | ||
| NM_001517.5:c.*121del (GTF2H4) MANE Select | NP_001508.1:n.*121del |