Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119651416_119651417delinsTG , CM000672.2:g.119651416_119651417delinsTG | GRCh38 |
| NC_000010.10:g.121410928_121410929delinsTG , CM000672.1:g.121410928_121410929delinsTG | GRCh37 |
| NC_000010.9:g.121400918_121400919delinsTG | NCBI36 |
| NG_016125.1:g.5047_5048delinsTG , LRG_742:g.5047_5048delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.-260_-259delinsTG MANE Select | ENSP00000358081.4:n.-260_-259delinsTG | |
| ENST00000369085.7:c.-260_-259delinsTG | ENSP00000358081.3:n.-260_-259delinsTG | |
| NM_004281.3:c.-260_-259delinsTG , LRG_742t1:c.-260_-259delinsTG | NP_004272.2:n.-260_-259delinsTG | |
| XM_005270287.1:c.-260_-259delinsTG | XP_005270344.1:n.-260_-259delinsTG | |
| XM_005270287.2:c.-260_-259delinsTG | XP_005270344.1:n.-260_-259delinsTG | |
| NM_004281.4:c.-260_-259delinsTG MANE Select | NP_004272.2:n.-260_-259delinsTG |