Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23415188_23415190del , CM000676.2:g.23415188_23415190del | GRCh38 |
| NC_000014.8:g.23884397_23884399del , CM000676.1:g.23884397_23884399del | GRCh37 |
| NC_000014.7:g.22954237_22954239del | NCBI36 |
| NG_007884.1:g.25472_25474del , LRG_384:g.25472_25474del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.5364_5366del MANE Select | ENSP00000347507.3:p.Gln1788_Thr1789delins... | |
| ENST00000355349.3:c.5364_5366del | ENSP00000347507.3:p.Gln1788_Thr1789delins... | |
| NM_000257.3:c.5364_5366del | NP_000248.2:p.Gln1788_Thr1789delinsHis | |
| XM_017021340.1:c.5364_5366del | XP_016876829.1:p.Gln1788_Thr1789delinsHis... | |
| NM_000257.4:c.5364_5366del MANE Select | NP_000248.2:p.Gln1788_Thr1789delinsHis |