Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672359_119672360delinsGT , CM000672.2:g.119672359_119672360delinsGT | GRCh38 |
| NC_000010.10:g.121431871_121431872delinsGT , CM000672.1:g.121431871_121431872delinsGT | GRCh37 |
| NC_000010.9:g.121421861_121421862delinsGT | NCBI36 |
| NG_016125.1:g.25990_25991delinsGT , LRG_742:g.25990_25991delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.612_613delinsGT MANE Select | ENSP00000358081.4:p.Gly204= | |
| ENST00000369085.7:c.612_613delinsGT | ENSP00000358081.3:p.Gly204= | |
| ENST00000450186.1:c.438_439delinsGT | ENSP00000410036.1:p.Gly146= | |
| NM_004281.3:c.612_613delinsGT , LRG_742t1:c.612_613delinsGT | NP_004272.2:p.Gly204= | |
| XM_005270287.1:c.612_613delinsGT | XP_005270344.1:p.Gly204= | |
| XM_005270287.2:c.612_613delinsGT | XP_005270344.1:p.Gly204= | |
| NM_004281.4:c.612_613delinsGT MANE Select | NP_004272.2:p.Gly204= |