ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43111238_43111239delinsTG , CM000672.2:g.43111238_43111239delinsTG | GRCh38 |
| NC_000010.10:g.43606686_43606687delinsTG , CM000672.1:g.43606686_43606687delinsTG | GRCh37 |
| NC_000010.9:g.42926692_42926693delinsTG | NCBI36 |
| NG_007489.1:g.39170_39171delinsTG , LRG_518:g.39170_39171delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.899_900delinsTG | ENSP00000480088.2:p.Ala300Val | |
| ENST00000683007.1:n.869_870delinsTG | ||
| ENST00000683872.1:n.56_57delinsTG | ||
| ENST00000340058.6:c.1295_1296delinsTG | ENSP00000344798.4:p.Ala432Val | |
| ENST00000355710.8:c.1295_1296delinsTG MANE Select | ENSP00000347942.3:p.Ala432Val | |
| ENST00000671844.1:c.657_658delinsTG | ENSP00000500541.1:p.Ile220Val | |
| ENST00000672389.1:c.105_106delinsTG | ENSP00000500252.1:p.Ile36Val | |
| ENST00000340058.5:c.1295_1296delinsTG | ENSP00000344798.4:p.Ala432Val | |
| ENST00000355710.7:c.1295_1296delinsTG | ENSP00000347942.3:p.Ala432Val | |
| ENST00000498820.5:c.74-861_74-860delinsTG | ENSP00000419080.1:n.74-861_74-860delinsTG | |
| ENST00000615310.4:c.1289+6_1289+7delinsTG | ENSP00000480088.1:n.1289+6_1289+7delinsTG | |
| NM_020630.4:c.1295_1296delinsTG , LRG_518t2:c.1295_1296delinsTG | NP_065681.1:p.Ala432Val | |
| NM_020975.4:c.1295_1296delinsTG , LRG_518t1:c.1295_1296delinsTG | NP_066124.1:p.Ala432Val | |
| XM_011540027.1:c.1295_1296delinsTG | XP_011538329.1:p.Ala432Val | |
| NM_001355216.1:c.533_534delinsTG | NP_001342145.1:p.Ala178Val | |
| NM_020630.5:c.1295_1296delinsTG | NP_065681.1:p.Ala432Val | |
| NM_020975.5:c.1295_1296delinsTG | NP_066124.1:p.Ala432Val | |
| NM_020975.6:c.1295_1296delinsTG MANE Select | NP_066124.1:p.Ala432Val | |
| NM_020630.6:c.1295_1296delinsTG | NP_065681.1:p.Ala432Val |