Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219418499_219419548del , CM000664.2:g.219418499_219419548del | GRCh38 |
| NC_000002.11:g.220283221_220284270del , CM000664.1:g.220283221_220284270del | GRCh37 |
| NC_000002.10:g.219991465_219992514del | NCBI36 |
| NG_008043.1:g.5123_6172del , LRG_380:g.5123_6172del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373960.4:c.37_578+508del | ||
| ENST00000373960.3:c.37_578+508del | ||
| NM_001927.3:c.37_578+508del , LRG_380t1:c.37_578+508del | ||
| NM_001927.4:c.37_578+508del | ||
| NM_001382708.1:c.37_578+508del | ||
| NM_001382709.1:c.37_578+508del | ||
| NM_001382710.1:c.37_578+508del | ||
| NM_001382711.1:c.37_578+508del | ||
| NM_001382712.1:c.37_578+508del | ||
| NM_001382713.1:c.37_495+591del |