Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188991397_188991411del , CM000664.2:g.188991397_188991411del | GRCh38 |
| NC_000002.11:g.189856123_189856137del , CM000664.1:g.189856123_189856137del | GRCh37 |
| NC_000002.10:g.189564368_189564382del | NCBI36 |
| NG_007404.1:g.22025_22039del , LRG_3:g.22025_22039del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.853-90_853-76del | ENSP00000415346.2:n.853-90_853-76del | |
| ENST00000304636.9:c.853-90_853-76del MANE Select | ENSP00000304408.4:n.853-90_853-76del | |
| ENST00000304636.7:c.853-90_853-76del | ENSP00000304408.3:n.853-90_853-76del | |
| ENST00000317840.9:c.853-90_853-76del | ENSP00000315243.6:n.853-90_853-76del | |
| NM_000090.3:c.853-90_853-76del , LRG_3t1:c.853-90_853-76del | NP_000081.1:n.853-90_853-76del | |
| NM_000090.4:c.853-90_853-76del MANE Select | NP_000081.2:n.853-90_853-76del |