Linked Data
dbSNP Id:
rs1752252189
gnomAD v3:
5-33955644-C-CACACACACACACAA
gnomAD v4:
5-33955644-C-CACACACACACACAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33955658_33955671dup , CM000667.2:g.33955658_33955671dup | GRCh38 |
| NC_000005.9:g.33955763_33955776dup , CM000667.1:g.33955763_33955776dup | GRCh37 |
| NC_000005.8:g.33991520_33991533dup | NCBI36 |
| NG_011691.2:g.34018_34031dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.889-1154_889-1141dup MANE Select | ENSP00000296589.4:n.889-1154_889-1141dup | |
| ENST00000296589.8:c.889-1154_889-1141dup | ENSP00000296589.4:n.889-1154_889-1141dup | |
| ENST00000382102.7:c.889-1154_889-1141dup | ENSP00000371534.3:n.889-1154_889-1141dup | |
| ENST00000509381.1:c.563-1154_563-1141dup | ENSP00000421100.1:n.563-1154_563-1141dup | |
| ENST00000510600.1:c.364-1154_364-1141dup | ENSP00000424010.1:n.364-1154_364-1141dup | |
| NM_001012509.3:c.889-1154_889-1141dup | NP_001012527.1:n.889-1154_889-1141dup | |
| NM_001297417.2:c.563-1154_563-1141dup | NP_001284346.2:n.563-1154_563-1141dup | |
| NM_016180.4:c.889-1154_889-1141dup | NP_057264.3:n.889-1154_889-1141dup | |
| XM_011514051.1:c.487-1154_487-1141dup | XP_011512353.1:n.487-1154_487-1141dup | |
| XR_925620.1:n.1706-1154_1706-1141dup | ||
| NM_016180.5:c.889-1154_889-1141dup MANE Select | NP_057264.4:n.889-1154_889-1141dup | |
| NM_001012509.4:c.889-1154_889-1141dup | NP_001012527.2:n.889-1154_889-1141dup | |
| NM_001297417.3:c.563-1154_563-1141dup | NP_001284346.2:n.563-1154_563-1141dup | |
| NM_001297417.4:c.563-1154_563-1141dup | NP_001284346.2:n.563-1154_563-1141dup |