Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227002_5227004delinsTCA , CM000673.2:g.5227002_5227004delinsTCA | GRCh38 |
| NC_000011.9:g.5248232_5248234delinsTCA , CM000673.1:g.5248232_5248234delinsTCA | GRCh37 |
| NC_000011.8:g.5204808_5204810delinsTCA | NCBI36 |
| NG_000007.3:g.70612_70614delinsTGA | |
| NG_059281.1:g.5068_5070delinsTGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.18_20delinsTGA | ENSP00000494175.1:p.Pro6= | |
| ENST00000335295.4:c.18_20delinsTGA MANE Select | ENSP00000333994.3:p.Pro6= | |
| ENST00000380315.2:c.18_20delinsTGA | ENSP00000369671.2:p.Pro6= | |
| ENST00000485743.1:n.69_71delinsTGA | ||
| ENST00000633227.1:c.18_20delinsTGA | ENSP00000488004.1:p.Pro6= | |
| NM_000518.4:c.18_20delinsTGA | NP_000509.1:p.Pro6= | |
| NM_000518.5:c.18_20delinsTGA MANE Select | NP_000509.1:p.Pro6= |