Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117276_19117279delinsTGTC , CM000669.2:g.19117276_19117279delinsTGTC | GRCh38 |
| NC_000007.13:g.19156899_19156902delinsTGTC , CM000669.1:g.19156899_19156902delinsTGTC | GRCh37 |
| NC_000007.12:g.19123424_19123427delinsTGTC | NCBI36 |
| NG_008114.1:g.5394_5397delinsGACA | |
| NG_008114.2:g.5394_5397delinsGACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.43_46delinsGACA MANE Select | ENSP00000242261.5:p.Asp15= | |
| ENST00000242261.5:c.43_46delinsGACA | ENSP00000242261.5:p.Asp15= | |
| NM_000474.3:c.43_46delinsGACA | NP_000465.1:p.Asp15= | |
| XM_011515496.1:c.43_46delinsGACA | XP_011513798.1:p.Asp15= | |
| NR_149001.1:n.394_397delinsGACA | ||
| NM_000474.4:c.43_46delinsGACA MANE Select | NP_000465.1:p.Asp15= | |
| NR_149001.2:n.358_361delinsGACA |