Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768251_115768256delinsGCATTC , CM000663.2:g.115768251_115768256delinsGCATTC | GRCh38 |
| NC_000001.10:g.116310872_116310877delinsGCATTC , CM000663.1:g.116310872_116310877delinsGCATTC | GRCh37 |
| NC_000001.9:g.116112395_116112400delinsGCATTC | NCBI36 |
| NG_008802.1:g.5550_5555delinsGAATGC , LRG_404:g.5550_5555delinsGAATGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-43+52_-43+57delinsGAATGC | ENSP00000518226.1:n.-43+52_-43+57delinsGAATGC | |
| ENST00000261448.6:c.234+52_234+57delinsGAATGC MANE Select | ENSP00000261448.5:n.234+52_234+57delinsGAATGC | |
| ENST00000261448.5:c.234+52_234+57delinsGAATGC | ENSP00000261448.5:n.234+52_234+57delinsGAATGC | |
| NM_001232.3:c.234+52_234+57delinsGAATGC , LRG_404t1:c.234+52_234+57delinsGAATGC | NP_001223.2:n.234+52_234+57delinsGAATGC | |
| NM_001232.4:c.234+52_234+57delinsGAATGC MANE Select | NP_001223.2:n.234+52_234+57delinsGAATGC |