Linked Data
gnomAD v4:
17-41584050-A-AAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584051_41584052dup , CM000679.2:g.41584051_41584052dup | GRCh38 |
| NC_000017.10:g.39740303_39740304dup , CM000679.1:g.39740303_39740304dup | GRCh37 |
| NC_000017.9:g.36993829_36993830dup | NCBI36 |
| NG_008624.1:g.7844_7845dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.766-131_766-130dup MANE Select | ENSP00000167586.6:n.766-131_766-130dup | |
| ENST00000167586.6:c.766-131_766-130dup | ENSP00000167586.6:n.766-131_766-130dup | |
| ENST00000476662.1:n.216-131_216-130dup | ||
| NM_000526.4:c.766-131_766-130dup | NP_000517.2:n.766-131_766-130dup | |
| NM_000526.5:c.766-131_766-130dup MANE Select | NP_000517.3:n.766-131_766-130dup |