Linked Data
ClinVar Variation Id:
359085
dbSNP Id:
rs886062029
gnomAD v2:
7-141354028-TATTA-T
gnomAD v3:
7-141654228-TATTA-T
gnomAD v4:
7-141654228-TATTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141654232_141654235del , CM000669.2:g.141654232_141654235del | GRCh38 |
| NC_000007.13:g.141354032_141354035del , CM000669.1:g.141354032_141354035del | GRCh37 |
| NC_000007.12:g.141000501_141000504del | NCBI36 |
| NG_032079.1:g.107955_107958del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649286.2:c.*1308_*1311del (AGK) MANE Select | ENSP00000497280.1:n.*1308_*1311del | |
| ENST00000355413.8:c.*1308_*1311del (AGK) | ENSP00000347581.4:n.*1308_*1311del | |
| ENST00000629555.2:c.*1682_*1685del (AGK) | ENSP00000487274.1:n.*1682_*1685del | |
| NM_018238.3:c.*1308_*1311del (AGK) | NP_060708.1:n.*1308_*1311del | |
| XM_011516397.1:c.*1308_*1311del (AGK) | XP_011514699.1:n.*1308_*1311del | |
| NM_018238.4:c.*1308_*1311del (AGK) MANE Select | NP_060708.1:n.*1308_*1311del | |
| XM_011516397.3:c.*1308_*1311del (AGK) | XP_011514699.1:n.*1308_*1311del | |
| XM_024446835.1:c.*1308_*1311del (AGK) | XP_024302603.1:n.*1308_*1311del | |
| XR_001744838.1:n.7516-1349_7516-1346del (DENND11) |