Linked Data
ClinVar Variation Id:
414004
dbSNP Id:
rs147661076
ExAC:
8:106813265 GTC / G
gnomAD v2:
8-106813265-GTC-G
gnomAD v3:
8-105801037-GTC-G
gnomAD v4:
8-105801037-GTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105801043_105801044del , CM000670.2:g.105801043_105801044del | GRCh38 |
| NC_000008.10:g.106813271_106813272del , CM000670.1:g.106813271_106813272del | GRCh37 |
| NC_000008.9:g.106882447_106882448del | NCBI36 |
| NG_011723.1:g.487125_487126del | |
| NG_011723.2:g.487125_487126del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407775.7:c.965-4_965-3del (ZFPM2) MANE Select | ENSP00000384179.2:n.965-4_965-3del | |
| ENST00000407775.6:c.965-4_965-3del (ZFPM2) | ENSP00000384179.2:n.965-4_965-3del | |
| ENST00000517361.1:c.569-4_569-3del (ZFPM2) | ENSP00000428720.1:n.569-4_569-3del | |
| ENST00000520492.5:c.569-4_569-3del (ZFPM2) | ENSP00000430757.1:n.569-4_569-3del | |
| ENST00000522296.1:n.759-4_759-3del (ZFPM2) | ||
| NM_012082.3:c.965-4_965-3del (ZFPM2) | NP_036214.2:n.965-4_965-3del | |
| NR_125796.1:n.180-2597_180-2596del (ZFPM2-AS1) | ||
| NR_125797.1:n.191-2597_191-2596del (ZFPM2-AS1) | ||
| XM_011516946.1:c.1004-4_1004-3del (ZFPM2) | XP_011515248.1:n.1004-4_1004-3del | |
| XM_011516947.1:c.935-4_935-3del (ZFPM2) | XP_011515249.1:n.935-4_935-3del | |
| XM_011516948.1:c.806-4_806-3del (ZFPM2) | XP_011515250.1:n.806-4_806-3del | |
| XM_011516949.1:c.797-4_797-3del (ZFPM2) | XP_011515251.1:n.797-4_797-3del | |
| NM_001362836.1:c.806-4_806-3del (ZFPM2) | NP_001349765.1:n.806-4_806-3del | |
| NM_001362837.1:c.569-4_569-3del (ZFPM2) | NP_001349766.1:n.569-4_569-3del | |
| XM_011516947.3:c.935-4_935-3del (ZFPM2) | XP_011515249.1:n.935-4_935-3del | |
| NM_012082.4:c.965-4_965-3del (ZFPM2) MANE Select | NP_036214.2:n.965-4_965-3del | |
| NM_001362836.2:c.806-4_806-3del (ZFPM2) | NP_001349765.1:n.806-4_806-3del | |
| NM_001362837.2:c.569-4_569-3del (ZFPM2) | NP_001349766.1:n.569-4_569-3del |