Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.127615395_127615401del , CM000669.2:g.127615395_127615401del | GRCh38 |
| NC_000007.13:g.127255449_127255455del , CM000669.1:g.127255449_127255455del | GRCh37 |
| NC_000007.12:g.127042685_127042691del | NCBI36 |
| NG_012848.1:g.5328_5334del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001366110.1:c.144+2_144+8del | |
| NM_001366111.1:c.144+2_144+8del | |
| NM_006193.2:c.120+2_120+8del | |
| ENST00000338516.7:c.144+2_144+8del | |
| ENST00000341640.6:c.120+2_120+8del | |
| ENST00000378740.6:c.120+2_120+8del | |
| ENST00000463946.5:c.-190_-184del | ENSP00000451923.1:n.-190_-184del |
| ENST00000483494.5:c.-190_-184del | ENSP00000473846.1:n.-190_-184del |
| ENST00000611453.1:c.-190_-184del | ENSP00000477877.1:n.-190_-184del |
| ENST00000639438.3:c.144+2_144+8del | |
| XM_011516276.1:c.144+2_144+8del |