Linked Data
ClinVar Variation Id:
319372
ClinVar RCV Id:
RCV000394610
dbSNP Id:
rs886052026
gnomAD v3:
16-47699722-TAAA-T
gnomAD v4:
16-47699722-TAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.47699724_47699726del , CM000678.2:g.47699724_47699726del | GRCh38 |
| NC_000016.9:g.47733635_47733637del , CM000678.1:g.47733635_47733637del | GRCh37 |
| NC_000016.8:g.46291136_46291138del | NCBI36 |
| NG_016598.1:g.243426_243428del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696809.1:c.*2214_*2216del | ENSP00000512887.1:n.*2214_*2216del | |
| ENST00000699276.1:c.*1268_*1270del | ENSP00000514257.1:n.*1268_*1270del | |
| ENST00000323584.10:c.*358_*360del MANE Select | ENSP00000313504.5:n.*358_*360del | |
| ENST00000299167.12:c.*358_*360del | ENSP00000299167.8:n.*358_*360del | |
| ENST00000323584.9:c.*358_*360del | ENSP00000313504.5:n.*358_*360del | |
| ENST00000566044.5:c.*358_*360del | ENSP00000456729.1:n.*358_*360del | |
| ENST00000566319.2:n.2456_2458del | ||
| NM_000293.2:c.*358_*360del | NP_000284.1:n.*358_*360del | |
| NM_001031835.2:c.*358_*360del | NP_001027005.1:n.*358_*360del | |
| XM_005255983.3:c.*358_*360del | XP_005256040.1:n.*358_*360del | |
| XM_005255984.3:c.*358_*360del | XP_005256041.1:n.*358_*360del | |
| XM_011523107.1:c.*358_*360del | XP_011521409.1:n.*358_*360del | |
| NM_001363837.1:c.*358_*360del | NP_001350766.1:n.*358_*360del | |
| XM_005255983.4:c.*358_*360del | XP_005256040.1:n.*358_*360del | |
| XM_005255984.4:c.*358_*360del | XP_005256041.1:n.*358_*360del | |
| XM_017023282.1:c.*358_*360del | XP_016878771.1:n.*358_*360del | |
| XM_017023283.1:c.*358_*360del | XP_016878772.1:n.*358_*360del | |
| XM_017023284.1:c.*358_*360del | XP_016878773.1:n.*358_*360del | |
| XR_001751913.1:n.3564_3566del | ||
| NM_000293.3:c.*358_*360del MANE Select | NP_000284.1:n.*358_*360del | |
| NM_001031835.3:c.*358_*360del | NP_001027005.1:n.*358_*360del |