Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20759985del , CM000686.2:g.20759985del | GRCh38 |
| NC_000024.9:g.22921871del , CM000686.1:g.22921871del | GRCh37 |
| NC_000024.8:g.21331259del | NCBI36 |
| NG_032924.1:g.8918del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000629237.2:c.199del MANE Select | ENSP00000486252.1:p.Gln67AsnfsTer21 | |
| ENST00000629237.1:c.199del | ENSP00000486252.1:p.Gln67AsnfsTer21 | |
| NM_001039567.2:c.199del | NP_001034656.1:p.Gln67AsnfsTer21 | |
| XM_011531423.1:c.148del | XP_011529725.1:p.Gln50AsnfsTer21 | |
| NM_001039567.3:c.199del MANE Select | NP_001034656.1:p.Gln67AsnfsTer21 |