Linked Data
ClinVar Variation Id:
2720923
ClinVar RCV Id:
RCV003554248
dbSNP Id:
rs745328158
gnomAD v2:
2-16085625-TGATGAAGAGGAA-T
gnomAD v3:
2-15945503-TGATGAAGAGGAA-T
gnomAD v4:
2-15945503-TGATGAAGAGGAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15945518_15945529del , CM000664.2:g.15945518_15945529del | GRCh38 |
| NC_000002.11:g.16085640_16085651del , CM000664.1:g.16085640_16085651del | GRCh37 |
| NC_000002.10:g.16003091_16003102del | NCBI36 |
| NG_007457.1:g.9958_9969del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703162.1:n.165_176del | ||
| ENST00000281043.4:c.816_827del MANE Select | ENSP00000281043.3:p.Asp272_Glu275del | |
| ENST00000638417.1:c.183_194del | ENSP00000491476.1:p.Asp61_Glu64del | |
| ENST00000281043.3:c.816_827del | ENSP00000281043.3:p.Asp272_Glu275del | |
| NM_001293228.1:c.816_827del | NP_001280157.1:p.Asp272_Glu275del | |
| NM_001293231.1:c.183_194del | NP_001280160.1:p.Asp61_Glu64del | |
| NM_001293233.1:c.*751_*762del | NP_001280162.1:n.*751_*762del | |
| NM_005378.5:c.816_827del | NP_005369.2:p.Asp272_Glu275del | |
| NM_005378.6:c.816_827del MANE Select | NP_005369.2:p.Asp272_Glu275del | |
| NM_001293228.2:c.816_827del | NP_001280157.1:p.Asp272_Glu275del | |
| NM_001293231.2:c.183_194del | NP_001280160.1:p.Asp61_Glu64del | |
| NM_001293233.2:c.*751_*762del | NP_001280162.1:n.*751_*762del |