Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226671_5226672delinsAA , CM000673.2:g.5226671_5226672delinsAA | GRCh38 |
| NC_000011.9:g.5247901_5247902delinsAA , CM000673.1:g.5247901_5247902delinsAA | GRCh37 |
| NC_000011.8:g.5204477_5204478delinsAA | NCBI36 |
| NG_000007.3:g.70944_70945delinsTT | |
| NG_059281.1:g.5400_5401delinsTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.220_221delinsTT | ENSP00000494175.1:p.Asp74Phe | |
| ENST00000335295.4:c.220_221delinsTT MANE Select | ENSP00000333994.3:p.Asp74Phe | |
| ENST00000380315.2:c.220_221delinsTT | ENSP00000369671.2:p.Asp74Phe | |
| ENST00000475226.1:n.152_153delinsTT | ||
| ENST00000485743.1:n.271_272delinsTT | ||
| ENST00000633227.1:c.*36_*37delinsTT | ENSP00000488004.1:n.*36_*37delinsTT | |
| NM_000518.4:c.220_221delinsTT | NP_000509.1:p.Asp74Phe | |
| NM_000518.5:c.220_221delinsTT MANE Select | NP_000509.1:p.Asp74Phe |