Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408971_38408973del , CM000685.2:g.38408971_38408973del | GRCh38 |
| NC_000023.10:g.38268224_38268226del , CM000685.1:g.38268224_38268226del | GRCh37 |
| NC_000023.9:g.38153168_38153170del | NCBI36 |
| NG_008471.1:g.61489_61491del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.813_815del MANE Select | ENSP00000039007.4:p.Glu272del | |
| ENST00000643344.1:c.*563_*565del | ENSP00000496606.1:n.*563_*565del | |
| ENST00000039007.4:c.813_815del | ENSP00000039007.4:p.Glu272del | |
| ENST00000465127.1:c.172-257150_172-257148del | ENSP00000417050.1:n.172-257150_172-257148del | |
| NM_000531.5:c.813_815del | NP_000522.3:p.Glu272del | |
| XM_017029556.1:c.813_815del | XP_016885045.1:p.Glu272del | |
| NM_000531.6:c.813_815del MANE Select | NP_000522.3:p.Glu272del |