Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37713382_37713384delinsCCT , CM000684.2:g.37713382_37713384delinsCCT | GRCh38 |
| NC_000022.10:g.38109389_38109391delinsCCT , CM000684.1:g.38109389_38109391delinsCCT | GRCh37 |
| NC_000022.9:g.36439335_36439337delinsCCT | NCBI36 |
| NG_012857.1:g.21395_21397delinsCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.427_429delinsCCT MANE Select | ENSP00000496394.1:p.Pro143= | |
| ENST00000344404.10:c.255-2381_255-2379delinsCCT | ENSP00000340312.6:n.255-2381_255-2379delinsCCT | |
| ENST00000406386.7:c.427_429delinsCCT | ENSP00000384312.3:p.Pro143= | |
| ENST00000455236.4:c.1384_1386delinsCCT | ENSP00000477208.1:n.1384_1386delinsCCT | |
| ENST00000492485.5:n.391-2381_391-2379delinsCCT | ||
| NM_001039141.2:c.427_429delinsCCT | NP_001034230.1:p.Pro143= | |
| NM_001039141.3:c.427_429delinsCCT MANE Select | NP_001034230.1:p.Pro143= |