Linked Data
ClinVar Variation Id:
452713
ClinVar RCV Id:
RCV000522397
dbSNP Id:
rs1553805881
gnomAD v4:
3-186853097-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186853100del , CM000665.2:g.186853100del | GRCh38 |
| NC_000003.11:g.186570889del , CM000665.1:g.186570889del | GRCh37 |
| NC_000003.10:g.188053583del | NCBI36 |
| NG_021140.1:g.15427del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320741.7:c.42del (ADIPOQ) MANE Select | ENSP00000320709.2:p.Gly15ValfsTer? | |
| ENST00000320741.6:c.42del (ADIPOQ) | ENSP00000320709.2:p.Gly15ValfsTer? | |
| ENST00000444204.2:c.42del (ADIPOQ) | ENSP00000389814.2:p.Gly15ValfsTer? | |
| NM_001177800.1:c.42del (ADIPOQ) | NP_001171271.1:p.Gly15ValfsTer? | |
| NM_004797.3:c.42del (ADIPOQ) | NP_004788.1:p.Gly15ValfsTer? | |
| NR_046662.1:n.2231del (ADIPOQ-AS1) | ||
| XM_011513324.1:c.42del (ADIPOQ) | XP_011511626.1:p.Gly15ValfsTer? | |
| NR_046662.2:n.2360del (ADIPOQ-AS1) | ||
| NM_004797.4:c.42del (ADIPOQ) MANE Select | NP_004788.1:p.Gly15ValfsTer? | |
| NM_001177800.2:c.42del (ADIPOQ) | NP_001171271.1:p.Gly15ValfsTer? |