Linked Data
dbSNP Id:
rs752416010
ExAC:
3:186571995 CAT / C
gnomAD v2:
3-186571995-CAT-C
gnomAD v4:
3-186854206-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186854207_186854208del , CM000665.2:g.186854207_186854208del | GRCh38 |
| NC_000003.11:g.186571996_186571997del , CM000665.1:g.186571996_186571997del | GRCh37 |
| NC_000003.10:g.188054690_188054691del | NCBI36 |
| NG_021140.1:g.16534_16535del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320741.7:c.238_239del (ADIPOQ) MANE Select | ENSP00000320709.2:p.Ile80ArgfsTer2 | |
| ENST00000320741.6:c.238_239del (ADIPOQ) | ENSP00000320709.2:p.Ile80ArgfsTer2 | |
| ENST00000444204.2:c.238_239del (ADIPOQ) | ENSP00000389814.2:p.Ile80ArgfsTer2 | |
| NM_001177800.1:c.238_239del (ADIPOQ) | NP_001171271.1:p.Ile80ArgfsTer2 | |
| NM_004797.3:c.238_239del (ADIPOQ) | NP_004788.1:p.Ile80ArgfsTer2 | |
| NR_046662.1:n.1916_1917del (ADIPOQ-AS1) | ||
| XM_011513324.1:c.238_239del (ADIPOQ) | XP_011511626.1:p.Ile80ArgfsTer2 | |
| NR_046662.2:n.2045_2046del (ADIPOQ-AS1) | ||
| NM_004797.4:c.238_239del (ADIPOQ) MANE Select | NP_004788.1:p.Ile80ArgfsTer2 | |
| NM_001177800.2:c.238_239del (ADIPOQ) | NP_001171271.1:p.Ile80ArgfsTer2 |