Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114714012_114714013insTGGGGGCTGGGTGGTT , CM000663.2:g.114714012_114714013insTGGGGGCTGGGTGGTT | GRCh38 |
| NC_000001.10:g.115256633_115256634insTGGGGGCTGGGTGGTT , CM000663.1:g.115256633_115256634insTGGGGGCTGGGTGGTT | GRCh37 |
| NC_000001.9:g.115058156_115058157insTGGGGGCTGGGTGGTT | NCBI36 |
| NG_007572.1:g.7882_7883insAACCACCCAGCCCCCA , LRG_92:g.7882_7883insAACCACCCAGCCCCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.112-35_112-34insAACCACCCAGCCCCCA MANE Select | ENSP00000358548.4:n.112-35_112-34insAACCACCCAGCCCCCA | |
| ENST00000369535.4:c.112-35_112-34insAACCACCCAGCCCCCA | ENSP00000358548.4:n.112-35_112-34insAACCACCCAGCCCCCA | |
| NM_002524.4:c.112-35_112-34insAACCACCCAGCCCCCA | NP_002515.1:n.112-35_112-34insAACCACCCAGCCCCCA | |
| NM_002524.5:c.112-35_112-34insAACCACCCAGCCCCCA MANE Select | NP_002515.1:n.112-35_112-34insAACCACCCAGCCCCCA |