Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114705767_114705776delinsGGGCCACCAT , CM000663.2:g.114705767_114705776delinsGGGCCACCAT | GRCh38 |
| NC_000001.10:g.115248388_115248397delinsGGGCCACCAT , CM000663.1:g.115248388_115248397delinsGGGCCACCAT | GRCh37 |
| NC_000001.9:g.115049911_115049920delinsGGGCCACCAT | NCBI36 |
| NG_007572.1:g.16119_16128delinsATGGTGGCCC , LRG_92:g.16119_16128delinsATGGTGGCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.*2318_*2327delinsATGGTGGCCC MANE Select | ENSP00000358548.4:n.*2318_*2327delinsATGGTGGCCC | |
| ENST00000369535.4:c.*2318_*2327delinsATGGTGGCCC | ENSP00000358548.4:n.*2318_*2327delinsATGGTGGCCC | |
| NM_002524.4:c.*2318_*2327delinsATGGTGGCCC | NP_002515.1:n.*2318_*2327delinsATGGTGGCCC | |
| NM_002524.5:c.*2318_*2327delinsATGGTGGCCC MANE Select | NP_002515.1:n.*2318_*2327delinsATGGTGGCCC |