Linked Data
gnomAD v4:
15-38253121-G-GCTGCTGTTGCTCCCCCGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38253135_38253152dup , CM000677.2:g.38253135_38253152dup | GRCh38 |
| NC_000015.9:g.38545336_38545353dup , CM000677.1:g.38545336_38545353dup | GRCh37 |
| NC_000015.8:g.36332628_36332645dup | NCBI36 |
| NG_008980.1:g.5285_5302dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.-51_-34dup MANE Select | ENSP00000299084.4:n.-51_-34dup | |
| ENST00000299084.8:c.-51_-34dup | ENSP00000299084.4:n.-51_-34dup | |
| ENST00000561205.1:n.288_305dup | ||
| NM_152594.2:c.-51_-34dup | NP_689807.1:n.-51_-34dup | |
| XM_005254202.2:c.-51_-34dup | XP_005254259.1:n.-51_-34dup | |
| XM_005254203.3:c.-98_-81dup | XP_005254260.1:n.-98_-81dup | |
| XM_005254202.3:c.-51_-34dup | XP_005254259.1:n.-51_-34dup | |
| XR_001751484.1:n.87+428_87+445dup | ||
| NM_152594.3:c.-51_-34dup MANE Select | NP_689807.1:n.-51_-34dup |