Linked Data
ClinVar Variation Id:
560828
ClinVar RCV Id:
RCV000679555
dbSNP Id:
rs1567470578
gnomAD v3:
16-68737342-ACTCCAGCCCG-A
gnomAD v4:
16-68737342-ACTCCAGCCCG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68737353_68737362del , CM000678.2:g.68737353_68737362del | GRCh38 |
| NC_000016.9:g.68771256_68771265del , CM000678.1:g.68771256_68771265del | GRCh37 |
| NC_000016.8:g.67328757_67328766del | NCBI36 |
| NG_008021.1:g.5062_5071del , LRG_301:g.5062_5071del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.-63_-54del MANE Select | ENSP00000261769.4:n.-63_-54del | |
| ENST00000261769.9:c.-63_-54del | ENSP00000261769.4:n.-63_-54del | |
| ENST00000566612.5:c.-63_-54del | ENSP00000454782.1:n.-63_-54del | |
| ENST00000611625.4:c.-63_-54del | ENSP00000481063.1:n.-63_-54del | |
| ENST00000612417.4:c.-63_-54del | ENSP00000478360.1:n.-63_-54del | |
| ENST00000621016.4:c.-63_-54del | ENSP00000480664.1:n.-63_-54del | |
| NM_004360.3:c.-63_-54del , LRG_301t1:c.-63_-54del | NP_004351.1:n.-63_-54del | |
| NM_001317184.1:c.-63_-54del | NP_001304113.1:n.-63_-54del | |
| NM_001317185.1:c.-1678_-1669del | NP_001304114.1:n.-1678_-1669del | |
| NM_001317186.1:c.-1882_-1873del | NP_001304115.1:n.-1882_-1873del | |
| NM_004360.4:c.-63_-54del | NP_004351.1:n.-63_-54del | |
| NM_004360.5:c.-63_-54del MANE Select | NP_004351.1:n.-63_-54del | |
| NM_001317184.2:c.-63_-54del | NP_001304113.1:n.-63_-54del | |
| NM_001317185.2:c.-1678_-1669del | NP_001304114.1:n.-1678_-1669del | |
| NM_001317186.2:c.-1882_-1873del | NP_001304115.1:n.-1882_-1873del |