Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478698_81478699delinsTA , CM000670.2:g.81478698_81478699delinsTA | GRCh38 |
| NC_000008.10:g.82390933_82390934delinsTA , CM000670.1:g.82390933_82390934delinsTA | GRCh37 |
| NC_000008.9:g.82553488_82553489delinsTA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*166_*167delinsTA MANE Select | ENSP00000256104.4:n.*166_*167delinsTA | |
| ENST00000256104.4:c.*166_*167delinsTA | ENSP00000256104.4:n.*166_*167delinsTA | |
| ENST00000518669.5:n.500_501delinsTA | ||
| NM_001442.2:c.*166_*167delinsTA | NP_001433.1:n.*166_*167delinsTA | |
| XR_001745980.1:n.514+16724_514+16725delinsTA | ||
| NM_001442.3:c.*166_*167delinsTA MANE Select | NP_001433.1:n.*166_*167delinsTA |