Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117078_19117081delinsCACA , CM000669.2:g.19117078_19117081delinsCACA | GRCh38 |
| NC_000007.13:g.19156701_19156704delinsCACA , CM000669.1:g.19156701_19156704delinsCACA | GRCh37 |
| NC_000007.12:g.19123226_19123229delinsCACA | NCBI36 |
| NG_008114.1:g.5592_5595delinsTGTG | |
| NG_008114.2:g.5592_5595delinsTGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.241_244delinsTGTG MANE Select | ENSP00000242261.5:p.Cys81= | |
| ENST00000242261.5:c.241_244delinsTGTG | ENSP00000242261.5:p.Cys81= | |
| ENST00000354571.5:c.38_41delinsTGTG | ||
| NM_000474.3:c.241_244delinsTGTG | NP_000465.1:p.Cys81= | |
| XM_011515496.1:c.241_244delinsTGTG | XP_011513798.1:p.Cys81= | |
| NR_149001.1:n.592_595delinsTGTG | ||
| NM_000474.4:c.241_244delinsTGTG MANE Select | NP_000465.1:p.Cys81= | |
| NR_149001.2:n.556_559delinsTGTG |