Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38411917_38411920delinsCAGA , CM000685.2:g.38411917_38411920delinsCAGA | GRCh38 |
| NC_000023.10:g.38271170_38271173delinsCAGA , CM000685.1:g.38271170_38271173delinsCAGA | GRCh37 |
| NC_000023.9:g.38156114_38156117delinsCAGA | NCBI36 |
| NG_008471.1:g.64435_64438delinsCAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.923_926delinsCAGA MANE Select | ENSP00000039007.4:p.Pro308= | |
| ENST00000643344.1:c.*673_*676delinsCAGA | ENSP00000496606.1:n.*673_*676delinsCAGA | |
| ENST00000039007.4:c.923_926delinsCAGA | ENSP00000039007.4:p.Pro308= | |
| ENST00000465127.1:c.172-254204_172-254201delinsCAGA | ENSP00000417050.1:n.172-254204_172-254201delinsCAGA | |
| NM_000531.5:c.923_926delinsCAGA | NP_000522.3:p.Pro308= | |
| NM_000531.6:c.923_926delinsCAGA MANE Select | NP_000522.3:p.Pro308= |