Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232539908_232539910delinsCCT , CM000664.2:g.232539908_232539910delinsCCT | GRCh38 |
| NC_000002.11:g.233404618_233404620delinsCCT , CM000664.1:g.233404618_233404620delinsCCT | GRCh37 |
| NC_000002.10:g.233112862_233112864delinsCCT | NCBI36 |
| NG_012954.1:g.5182_5184delinsCCT | |
| NG_012954.2:g.5217_5219delinsCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.56-84_56-82delinsCCT MANE Select | ENSP00000498757.1:n.56-84_56-82delinsCCT | |
| ENST00000389492.3:c.56-84_56-82delinsCCT | ENSP00000374143.3:n.56-84_56-82delinsCCT | |
| ENST00000389494.7:c.56-84_56-82delinsCCT | ENSP00000374145.3:n.56-84_56-82delinsCCT | |
| ENST00000485094.1:n.77-84_77-82delinsCCT | ||
| NM_005199.4:c.56-84_56-82delinsCCT | NP_005190.4:n.56-84_56-82delinsCCT | |
| NM_005199.5:c.56-84_56-82delinsCCT MANE Select | NP_005190.4:n.56-84_56-82delinsCCT |