Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951903delinsTGGGCT , CM000670.2:g.19951903delinsTGGGCT | GRCh38 |
| NC_000008.10:g.19809414delinsTGGGCT , CM000670.1:g.19809414delinsTGGGCT | GRCh37 |
| NC_000008.9:g.19853694delinsTGGGCT | NCBI36 |
| NG_008855.1:g.17833delinsTGGGCT | |
| NG_008855.2:g.55187delinsTGGGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.384delinsTGGGCT MANE Select | ENSP00000497642.1:p.Lys129GlyfsTer? | |
| ENST00000311322.8:c.384delinsTGGGCT | ENSP00000309757.6:p.Lys129GlyfsTer? | |
| ENST00000520959.5:c.156delinsTGGGCT | ENSP00000428496.1:p.Lys53GlyfsTer? | |
| ENST00000524029.5:c.384delinsTGGGCT | ENSP00000428237.1:p.Lys129GlyfsTer? | |
| NM_000237.2:c.384delinsTGGGCT | NP_000228.1:p.Lys129GlyfsTer? | |
| NM_000237.3:c.384delinsTGGGCT MANE Select | NP_000228.1:p.Lys129GlyfsTer? |