Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12379721_12379722delinsCA , CM000686.2:g.12379721_12379722delinsCA | GRCh38 |
| NC_000024.9:g.14491524_14491525delinsCA , CM000686.1:g.14491524_14491525delinsCA | GRCh37 |
| NC_000024.8:g.13001532_13001533delinsCA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382965.3:n.317-973_317-972delinsTG (GYG2P1) | ||
| ENST00000689264.1:n.402-973_402-972delinsTG (GYG2P1) | ||
| ENST00000443820.2:n.989+1899_989+1900delinsCA (ARSDP1) | ||
| ENST00000651802.1:n.450+26662_450+26663delinsTG (GYG2P1) | ||
| ENST00000651835.1:n.319+27074_319+27075delinsTG (GYG2P1) | ||
| ENST00000382966.5:n.284-24951_284-24950delinsTG (GYG2P1) | ||
| ENST00000443820.1:n.438-2615_438-2614delinsCA (ARSDP1) | ||
| XR_001756061.1:n.609-973_609-972delinsTG |