Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028874_135028877delinsTGGC , CM000667.2:g.135028874_135028877delinsTGGC | GRCh38 |
| NC_000005.9:g.134364564_134364567delinsTGGC , CM000667.1:g.134364564_134364567delinsTGGC | GRCh37 |
| NC_000005.8:g.134392463_134392466delinsTGGC | NCBI36 |
| NG_012114.1:g.10398_10401delinsGCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.847_850delinsGCCA MANE Select | ENSP00000265340.6:p.Ala283= | |
| ENST00000265340.11:c.847_850delinsGCCA | ENSP00000265340.6:p.Ala283= | |
| ENST00000506438.5:c.847_850delinsGCCA | ENSP00000427542.1:p.Ala283= | |
| NM_002653.4:c.847_850delinsGCCA | NP_002644.4:p.Ala283= | |
| NM_002653.5:c.847_850delinsGCCA MANE Select | NP_002644.4:p.Ala283= |