Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12500241_12500253delinsGCTGTCCTGTGCA , CM000686.2:g.12500241_12500253delinsGCTGTCCTGTGCA | GRCh38 |
| NC_000024.9:g.14612035_14612047delinsGCTGTCCTGTGCA , CM000686.1:g.14612035_14612047delinsGCTGTCCTGTGCA | GRCh37 |
| NC_000024.8:g.13122043_13122055delinsGCTGTCCTGTGCA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381172.3:n.61+7056_61+7068delinsTGCACAGGACAGC |