Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202464980_202464986del , CM000664.2:g.202464980_202464986del | GRCh38 |
| NC_000002.11:g.203329703_203329709del , CM000664.1:g.203329703_203329709del | GRCh37 |
| NC_000002.10:g.203037948_203037954del | NCBI36 |
| NG_009363.1:g.93654_93660del , LRG_712:g.93654_93660del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.247+1_247+7del | ||
| ENST00000638587.1:c.173_176+3del | ||
| ENST00000374574.2:c.247+1_247+7del | ||
| ENST00000374580.8:c.247+1_247+7del | ||
| ENST00000479069.1:n.154+1_154+7del | ||
| NM_001204.6:c.247+1_247+7del , LRG_712t1:c.247+1_247+7del | ||
| XM_011511687.1:c.247+1_247+7del | ||
| XM_011511688.1:c.247+1_247+7del | ||
| NM_001204.7:c.247+1_247+7del |