Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225707_5225719delinsACCAGCACGTTGC , CM000673.2:g.5225707_5225719delinsACCAGCACGTTGC | GRCh38 |
| NC_000011.9:g.5246937_5246949delinsACCAGCACGTTGC , CM000673.1:g.5246937_5246949delinsACCAGCACGTTGC | GRCh37 |
| NC_000011.8:g.5203513_5203525delinsACCAGCACGTTGC | NCBI36 |
| NG_000007.3:g.71897_71909delinsGCAACGTGCTGGT | |
| NG_059281.1:g.6353_6365delinsGCAACGTGCTGGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.323_335delinsGCAACGTGCTGGT | ENSP00000494175.1:p.Gly108= | |
| ENST00000335295.4:c.323_335delinsGCAACGTGCTGGT MANE Select | ENSP00000333994.3:p.Gly108= | |
| ENST00000475226.1:n.255_267delinsGCAACGTGCTGGT | ||
| ENST00000633227.1:c.*139_*151delinsGCAACGTGCTGGT | ENSP00000488004.1:n.*139_*151delinsGCAACG... | |
| NM_000518.4:c.323_335delinsGCAACGTGCTGGT | NP_000509.1:p.Gly108= | |
| NM_000518.5:c.323_335delinsGCAACGTGCTGGT MANE Select | NP_000509.1:p.Gly108= |