Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128937873_128937877del , CM000669.2:g.128937873_128937877del | GRCh38 |
| NC_000007.13:g.128577927_128577931del , CM000669.1:g.128577927_128577931del | GRCh37 |
| NC_000007.12:g.128365163_128365167del | NCBI36 |
| NG_012306.1:g.4934_4938del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001347928.1:c.-12+608_-12+612del | NP_001334857.1:n.-12+608_-12+612del |
| NM_001347928.2:c.-12+608_-12+612del | NP_001334857.1:n.-12+608_-12+612del |
| ENST00000489702.5:c.-12+39_-12+43del | ENSP00000418037.1:n.-12+39_-12+43del |
| ENST00000489702.6:c.-12+39_-12+43del | ENSP00000418037.2:n.-12+39_-12+43del |
| ENST00000652525.1:c.-12+179_-12+183del | ENSP00000498293.1:n.-12+179_-12+183del |
| ENST00000700148.1:n.52+39_52+43del | |
| XM_011516160.1:c.-12+39_-12+43del | XP_011514462.1:n.-12+39_-12+43del |