Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226671_5226673delinsTCA , CM000673.2:g.5226671_5226673delinsTCA | GRCh38 |
| NC_000011.9:g.5247901_5247903delinsTCA , CM000673.1:g.5247901_5247903delinsTCA | GRCh37 |
| NC_000011.8:g.5204477_5204479delinsTCA | NCBI36 |
| NG_000007.3:g.70943_70945delinsTGA | |
| NG_059281.1:g.5399_5401delinsTGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.219_221delinsTGA | ENSP00000494175.1:p.Ser73= | |
| ENST00000335295.4:c.219_221delinsTGA MANE Select | ENSP00000333994.3:p.Ser73= | |
| ENST00000380315.2:c.219_221delinsTGA | ENSP00000369671.2:p.Ser73= | |
| ENST00000475226.1:n.151_153delinsTGA | ||
| ENST00000485743.1:n.270_272delinsTGA | ||
| ENST00000633227.1:c.*35_*37delinsTGA | ENSP00000488004.1:n.*35_*37delinsTGA | |
| NM_000518.4:c.219_221delinsTGA | NP_000509.1:p.Ser73= | |
| NM_000518.5:c.219_221delinsTGA MANE Select | NP_000509.1:p.Ser73= |