ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.123373435_123373436delinsTG , CM000671.2:g.123373435_123373436delinsTG | GRCh38 |
| NC_000009.11:g.126135714_126135715delinsTG , CM000671.1:g.126135714_126135715delinsTG | GRCh37 |
| NC_000009.10:g.125175535_125175536delinsTG | NCBI36 |
| NG_051311.1:g.24371_24372delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373631.8:c.2904_2905delinsTG MANE Select | ENSP00000362734.3:p.Thr969Ala | |
| ENST00000359999.7:c.2904_2905delinsTG | ENSP00000353092.3:p.Thr969Ala | |
| ENST00000373631.7:c.2904_2905delinsTG | ENSP00000362734.3:p.Thr969Ala | |
| ENST00000460253.1:c.1908_1909delinsTG | ENSP00000435279.1:p.Thr637Ala | |
| NM_173689.6:c.2904_2905delinsTG | NP_775960.4:p.Thr969Ala | |
| NR_104603.1:n.2018_2019delinsTG | ||
| XM_005251934.1:c.1908_1909delinsTG | XP_005251991.1:p.Thr637Ala | |
| XM_011518556.1:c.2877_2878delinsTG | XP_011516858.1:p.Thr960Ala | |
| XM_011518557.1:c.2709_2710delinsTG | XP_011516859.1:p.Thr904Ala | |
| XM_011518558.1:c.2709_2710delinsTG | XP_011516860.1:p.Thr904Ala | |
| XM_005251934.3:c.1908_1909delinsTG | XP_005251991.1:p.Thr637Ala | |
| XM_011518556.3:c.2877_2878delinsTG | XP_011516858.1:p.Thr960Ala | |
| XM_011518557.3:c.2709_2710delinsTG | XP_011516859.1:p.Thr904Ala | |
| XM_011518558.3:c.2709_2710delinsTG | XP_011516860.1:p.Thr904Ala | |
| NM_173689.7:c.2904_2905delinsTG MANE Select | NP_775960.4:p.Thr969Ala | |
| NR_104603.2:n.2018_2019delinsTG |