Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87727459_87727462delinsGACA , CM000672.2:g.87727459_87727462delinsGACA | GRCh38 |
| NC_000010.10:g.89487216_89487219delinsGACA , CM000672.1:g.89487216_89487219delinsGACA | GRCh37 |
| NC_000010.9:g.89477196_89477199delinsGACA | NCBI36 |
| NG_012150.1:g.72741_72744delinsGACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.1056_1059delinsGACA MANE Select | ENSP00000406157.1:p.Gly352= | |
| ENST00000361175.8:c.1041_1044delinsGACA | ENSP00000354436.4:p.Gly347= | |
| ENST00000456849.1:c.1056_1059delinsGACA | ENSP00000406157.1:p.Gly352= | |
| NM_001015880.1:c.1056_1059delinsGACA | NP_001015880.1:p.Gly352= | |
| NM_004670.3:c.1041_1044delinsGACA | NP_004661.2:p.Gly347= | |
| NM_001015880.2:c.1056_1059delinsGACA MANE Select | NP_001015880.1:p.Gly352= | |
| NM_004670.4:c.1041_1044delinsGACA | NP_004661.2:p.Gly347= |