Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12363611_12363613del , CM000686.2:g.12363611_12363613del | GRCh38 |
| NC_000024.9:g.14484342_14484344del , CM000686.1:g.14484342_14484344del | GRCh37 |
| NC_000024.8:g.12994350_12994352del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443820.2:n.193+1237_193+1239del (ARSDP1) | ||
| ENST00000651802.1:n.450+42775_450+42777del (GYG2P1) | ||
| ENST00000651835.1:n.319+43187_319+43189del (GYG2P1) | ||
| ENST00000382966.5:n.284-8838_284-8836del (GYG2P1) | ||
| ENST00000443820.1:n.193+1237_193+1239del (ARSDP1) | ||
| XR_001756060.1:n.104_106del |