Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226673_5226674del , CM000673.2:g.5226673_5226674del | GRCh38 |
| NC_000011.9:g.5247903_5247904del , CM000673.1:g.5247903_5247904del | GRCh37 |
| NC_000011.8:g.5204479_5204480del | NCBI36 |
| NG_000007.3:g.70943_70944del | |
| NG_059281.1:g.5399_5400del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.219_220del | ENSP00000494175.1:p.Ser73ArgfsTer18 | |
| ENST00000335295.4:c.219_220del MANE Select | ENSP00000333994.3:p.Ser73ArgfsTer18 | |
| ENST00000380315.2:c.219_220del | ENSP00000369671.2:p.Ser73ArgfsTer18 | |
| ENST00000475226.1:n.151_152del | ||
| ENST00000485743.1:n.270_271del | ||
| ENST00000633227.1:c.*35_*36del | ENSP00000488004.1:n.*35_*36del | |
| NM_000518.4:c.219_220del | NP_000509.1:p.Ser73ArgfsTer18 | |
| NM_000518.5:c.219_220del MANE Select | NP_000509.1:p.Ser73ArgfsTer18 |