Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414417_1414420delinsAGGG , CM000667.2:g.1414417_1414420delinsAGGG | GRCh38 |
| NC_000005.9:g.1414532_1414535delinsAGGG , CM000667.1:g.1414532_1414535delinsAGGG | GRCh37 |
| NC_000005.8:g.1467532_1467535delinsAGGG | NCBI36 |
| NG_015885.1:g.36009_36012delinsCCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+271_1156+274delinsCCCT MANE Select | ENSP00000270349.9:n.1156+271_1156+274delinsCCCT | |
| ENST00000270349.11:c.1156+271_1156+274delinsCCCT | ENSP00000270349.9:n.1156+271_1156+274delinsCCCT | |
| NM_001044.4:c.1156+271_1156+274delinsCCCT | NP_001035.1:n.1156+271_1156+274delinsCCCT | |
| NM_001044.5:c.1156+271_1156+274delinsCCCT MANE Select | NP_001035.1:n.1156+271_1156+274delinsCCCT |