Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414431_1414446delinsACTGGGTGGGGGGCCG , CM000667.2:g.1414431_1414446delinsACTGGGTGGGGGGCCG | GRCh38 |
| NC_000005.9:g.1414546_1414561delinsACTGGGTGGGGGGCCG , CM000667.1:g.1414546_1414561delinsACTGGGTGGGGGGCCG | GRCh37 |
| NC_000005.8:g.1467546_1467561delinsACTGGGTGGGGGGCCG | NCBI36 |
| NG_015885.1:g.35983_35998delinsCGGCCCCCCACCCAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+245_1156+260delinsCGGCCCCCCACCCAGT MANE Select | ENSP00000270349.9:n.1156+245_1156+260delinsCGGCCCCCCACCCAGT | |
| ENST00000270349.11:c.1156+245_1156+260delinsCGGCCCCCCACCCAGT | ENSP00000270349.9:n.1156+245_1156+260delinsCGGCCCCCCACCCAGT | |
| NM_001044.4:c.1156+245_1156+260delinsCGGCCCCCCACCCAGT | NP_001035.1:n.1156+245_1156+260delinsCGGCCCCCCACCCAGT | |
| NM_001044.5:c.1156+245_1156+260delinsCGGCCCCCCACCCAGT MANE Select | NP_001035.1:n.1156+245_1156+260delinsCGGCCCCCCACCCAGT |