Linked Data
gnomAD v4:
10-122508672-G-GAATT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508675_122508678dup , CM000672.2:g.122508675_122508678dup | GRCh38 |
| NC_000010.10:g.124268191_124268194dup , CM000672.1:g.124268191_124268194dup | GRCh37 |
| NC_000010.9:g.124258181_124258184dup | NCBI36 |
| NG_011554.1:g.52151_52154dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1025_1028dup MANE Select | ENSP00000357980.3:p.Thr344Ter | |
| ENST00000648167.1:c.707_710dup | ENSP00000498033.1:p.Thr238Ter | |
| ENST00000368984.7:c.1025_1028dup | ENSP00000357980.3:p.Thr344Ter | |
| ENST00000420892.1:c.248_251dup | ENSP00000412676.1:p.Thr85Ter | |
| NM_002775.4:c.1025_1028dup | NP_002766.1:p.Thr344Ter | |
| NM_002775.5:c.1025_1028dup MANE Select | NP_002766.1:p.Thr344Ter |