Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1423849_1423856delinsCGCGTTAT , CM000667.2:g.1423849_1423856delinsCGCGTTAT | GRCh38 |
| NC_000005.9:g.1423964_1423971delinsCGCGTTAT , CM000667.1:g.1423964_1423971delinsCGCGTTAT | GRCh37 |
| NC_000005.8:g.1476964_1476971delinsCGCGTTAT | NCBI36 |
| NG_015885.1:g.26573_26580delinsATAACGCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.654-1842_654-1835delinsATAACGCG MANE Select | ENSP00000270349.9:n.654-1842_654-1835delinsATAACGCG | |
| ENST00000270349.11:c.654-1842_654-1835delinsATAACGCG | ENSP00000270349.9:n.654-1842_654-1835delinsATAACGCG | |
| NM_001044.4:c.654-1842_654-1835delinsATAACGCG | NP_001035.1:n.654-1842_654-1835delinsATAACGCG | |
| NM_001044.5:c.654-1842_654-1835delinsATAACGCG MANE Select | NP_001035.1:n.654-1842_654-1835delinsATAACGCG |