Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232541452_232541456delinsTGCCA , CM000664.2:g.232541452_232541456delinsTGCCA | GRCh38 |
| NC_000002.11:g.233406162_233406166delinsTGCCA , CM000664.1:g.233406162_233406166delinsTGCCA | GRCh37 |
| NC_000002.10:g.233114406_233114410delinsTGCCA | NCBI36 |
| NG_012954.1:g.6726_6730delinsTGCCA | |
| NG_012954.2:g.6761_6765delinsTGCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.429_433delinsTGCCA MANE Select | ENSP00000498757.1:p.Pro143= | |
| ENST00000389492.3:c.350+741_350+745delinsTGCCA | ENSP00000374143.3:n.350+741_350+745delinsTGCCA | |
| ENST00000389494.7:c.429_433delinsTGCCA | ENSP00000374145.3:p.Pro143= | |
| ENST00000485094.1:n.450_454delinsTGCCA | ||
| NM_005199.4:c.429_433delinsTGCCA | NP_005190.4:p.Pro143= | |
| NM_005199.5:c.429_433delinsTGCCA MANE Select | NP_005190.4:p.Pro143= |