ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31068173delinsAA , CM000680.2:g.31068173delinsAA | GRCh38 |
| NC_000018.9:g.28648139delinsAA , CM000680.1:g.28648139delinsAA | GRCh37 |
| NC_000018.8:g.26902137delinsAA | NCBI36 |
| NG_008208.2:g.39253delinsTT , LRG_400:g.39253delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.2119delinsTT | ENSP00000507826.1:p.Ala707PhefsTer9 | |
| ENST00000251081.8:c.*50delinsTT | ENSP00000251081.6:n.*50delinsTT | |
| ENST00000280904.11:c.2548delinsTT MANE Select | ENSP00000280904.6:p.Ala850PhefsTer9 | |
| ENST00000648081.1:c.2119delinsTT | ENSP00000497441.1:p.Ala707PhefsTer9 | |
| ENST00000251081.6:c.*50delinsTT | ENSP00000251081.6:n.*50delinsTT | |
| ENST00000280904.10:c.2548delinsTT | ENSP00000280904.6:p.Ala850PhefsTer9 | |
| NM_004949.4:c.*50delinsTT | NP_004940.1:n.*50delinsTT | |
| NM_024422.4:c.2548delinsTT | NP_077740.1:p.Ala850PhefsTer9 | |
| XM_005258206.3:c.2119delinsTT | XP_005258263.1:p.Ala707PhefsTer9 | |
| XM_005258206.4:c.2119delinsTT | XP_005258263.1:p.Ala707PhefsTer9 | |
| NM_004949.5:c.*50delinsTT | NP_004940.1:n.*50delinsTT | |
| NM_024422.6:c.2548delinsTT MANE Select | NP_077740.1:p.Ala850PhefsTer9 |