Linked Data
ClinVar Variation Id:
337464
dbSNP Id:
rs566328757
gnomAD v2:
2-96917253-CTT-C
gnomAD v3:
2-96251515-CTT-C
gnomAD v4:
2-96251515-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96251516_96251517del , CM000664.2:g.96251516_96251517del | GRCh38 |
| NC_000002.11:g.96917254_96917255del , CM000664.1:g.96917254_96917255del | GRCh37 |
| NC_000002.10:g.96280981_96280982del | NCBI36 |
| NG_027695.1:g.19497_19498del , LRG_528:g.19497_19498del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.*2291_*2292del MANE Select | ENSP00000258439.3:n.*2291_*2292del | |
| ENST00000258439.7:c.*2291_*2292del | ENSP00000258439.2:n.*2291_*2292del | |
| NM_001193304.2:c.*2291_*2292del | NP_001180233.1:n.*2291_*2292del | |
| NM_017849.3:c.*2291_*2292del , LRG_528t1:c.*2291_*2292del | NP_060319.1:n.*2291_*2292del | |
| XM_017004450.1:c.*1592_*1593del | XP_016859939.1:n.*1592_*1593del | |
| XM_017004452.1:c.*2291_*2292del | XP_016859941.1:n.*2291_*2292del | |
| NM_001193304.3:c.*2291_*2292del | NP_001180233.1:n.*2291_*2292del | |
| NM_017849.4:c.*2291_*2292del MANE Select | NP_060319.1:n.*2291_*2292del |