Linked Data
dbSNP Id:
rs1345905153
gnomAD v2:
15-28530184-CCAAA-C
gnomAD v3:
15-28285038-CCAAA-C
gnomAD v4:
15-28285038-CCAAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28285047_28285050del , CM000677.2:g.28285047_28285050del | GRCh38 |
| NC_000015.9:g.28530193_28530196del , CM000677.1:g.28530193_28530196del | GRCh37 |
| NC_000015.8:g.26203788_26203791del | NCBI36 |
| NG_016355.1:g.42108_42111del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261609.13:c.323-4755_323-4752del MANE Select | ENSP00000261609.8:n.323-4755_323-4752del | |
| ENST00000261609.11:c.323-4755_323-4752del | ENSP00000261609.7:n.323-4755_323-4752del | |
| ENST00000564383.1:n.218-4755_218-4752del | ||
| ENST00000564734.5:c.*193-4755_*193-4752del | ENSP00000456237.1:n.*193-4755_*193-4752de... | |
| NM_004667.5:c.323-4755_323-4752del | NP_004658.3:n.323-4755_323-4752del | |
| XM_005268276.3:c.209-4755_209-4752del | XP_005268333.1:n.209-4755_209-4752del | |
| XM_005268277.3:c.209-4755_209-4752del | XP_005268334.1:n.209-4755_209-4752del | |
| XM_006720726.2:c.323-4755_323-4752del | XP_006720789.1:n.323-4755_323-4752del | |
| XM_006720727.2:c.323-4755_323-4752del | XP_006720790.1:n.323-4755_323-4752del | |
| XM_011522133.1:c.322+7846_322+7849del | XP_011520435.1:n.322+7846_322+7849del | |
| XM_011522135.1:c.323-4755_323-4752del | XP_011520437.1:n.323-4755_323-4752del | |
| XM_011522136.1:c.323-4755_323-4752del | XP_011520438.1:n.323-4755_323-4752del | |
| XM_011522137.1:c.323-4755_323-4752del | XP_011520439.1:n.323-4755_323-4752del | |
| XR_931930.1:n.452-4755_452-4752del | ||
| XR_931931.1:n.452-4755_452-4752del | ||
| XM_005268276.5:c.209-4755_209-4752del | XP_005268333.1:n.209-4755_209-4752del | |
| XM_006720726.3:c.323-4755_323-4752del | XP_006720789.1:n.323-4755_323-4752del | |
| XM_006720727.3:c.323-4755_323-4752del | XP_006720790.1:n.323-4755_323-4752del | |
| XM_017022695.1:c.209-4755_209-4752del | XP_016878184.1:n.209-4755_209-4752del | |
| XM_017022696.1:c.209-4755_209-4752del | XP_016878185.1:n.209-4755_209-4752del | |
| XR_001751410.1:n.453-4755_453-4752del | ||
| XR_931930.2:n.453-4755_453-4752del | ||
| NM_004667.6:c.323-4755_323-4752del MANE Select | NP_004658.3:n.323-4755_323-4752del |