Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010187_21010188del , CM000664.2:g.21010187_21010188del | GRCh38 |
| NC_000002.11:g.21233059_21233060del , CM000664.1:g.21233059_21233060del | GRCh37 |
| NC_000002.10:g.21086564_21086565del | NCBI36 |
| NG_011793.1:g.38886_38887del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.6680_6681del MANE Select | ENSP00000233242.1:p.His2227ArgfsTer7 | |
| ENST00000616098.4:c.6680_6681del | ENSP00000477990.1:p.His2227ArgfsTer7 | |
| NM_000384.2:c.6680_6681del | NP_000375.2:p.His2227ArgfsTer7 | |
| XM_011532809.1:c.5869+545_5869+546del | XP_011531111.1:n.5869+545_5869+546del | |
| NM_000384.3:c.6680_6681del MANE Select | NP_000375.3:p.His2227ArgfsTer7 |