Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226671_5226675delinsA , CM000673.2:g.5226671_5226675delinsA | GRCh38 |
| NC_000011.9:g.5247901_5247905delinsA , CM000673.1:g.5247901_5247905delinsA | GRCh37 |
| NC_000011.8:g.5204477_5204481delinsA | NCBI36 |
| NG_000007.3:g.70941_70945delinsT | |
| NG_059281.1:g.5397_5401delinsT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.217_221delinsT | ENSP00000494175.1:p.Ser73LeufsTer16 | |
| ENST00000335295.4:c.217_221delinsT MANE Select | ENSP00000333994.3:p.Ser73LeufsTer16 | |
| ENST00000380315.2:c.217_221delinsT | ENSP00000369671.2:p.Ser73LeufsTer16 | |
| ENST00000475226.1:n.149_153delinsT | ||
| ENST00000485743.1:n.268_272delinsT | ||
| ENST00000633227.1:c.*33_*37delinsT | ENSP00000488004.1:n.*33_*37delinsT | |
| NM_000518.4:c.217_221delinsT | NP_000509.1:p.Ser73LeufsTer16 | |
| NM_000518.5:c.217_221delinsT MANE Select | NP_000509.1:p.Ser73LeufsTer16 |