gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44949077_44949078insCCCCCAGACCC , CM000681.2:g.44949077_44949078insCCCCCAGACCC | GRCh38 |
| NC_000019.9:g.45452334_45452335insCCCCCAGACCC , CM000681.1:g.45452334_45452335insCCCCCAGACCC | GRCh37 |
| NC_000019.8:g.50144174_50144175insCCCCCAGACCC | NCBI36 |
| NG_008837.1:g.8092_8093insCCCCCAGACCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252490.7:c.216-82_216-81insCCCCCAGACCC (APOC2) MANE Select | ENSP00000252490.5:n.216-82_216-81insCCCCCAGACCC | |
| ENST00000252490.5:c.216-82_216-81insCCCCCAGACCC (APOC4-APOC2) | ENSP00000252490.4:n.216-82_216-81insCCCCCAGACCC | |
| ENST00000585685.5:c.*999-82_*999-81insCCCCCAGACCC (APOC4-APOC2) | ENSP00000467185.1:n.*999-82_*999-81insCCCCCAGACCC | |
| ENST00000585786.1:c.*213_*214insCCCCCAGACCC (APOC2) | ENSP00000465001.1:n.*213_*214insCCCCCAGACCC | |
| ENST00000589057.5:c.447-82_447-81insCCCCCAGACCC (APOC4-APOC2) | ENSP00000468139.1:n.447-82_447-81insCCCCCAGACCC | |
| ENST00000590360.2:c.216-82_216-81insCCCCCAGACCC (APOC2) | ENSP00000466775.1:n.216-82_216-81insCCCCCAGACCC | |
| ENST00000591597.5:c.174-82_174-81insCCCCCAGACCC (APOC2) | ENSP00000476835.1:n.174-82_174-81insCCCCCAGACCC | |
| ENST00000592257.5:c.*10-82_*10-81insCCCCCAGACCC (APOC2) | ENSP00000477261.1:n.*10-82_*10-81insCCCCCAGACCC | |
| NM_000483.4:c.216-82_216-81insCCCCCAGACCC (APOC2) | NP_000474.2:n.216-82_216-81insCCCCCAGACCC | |
| NR_037932.1:n.1423-82_1423-81insCCCCCAGACCC (APOC4-APOC2) | ||
| NM_000483.5:c.216-82_216-81insCCCCCAGACCC (APOC2) MANE Select | NP_000474.2:n.216-82_216-81insCCCCCAGACCC |