Linked Data
dbSNP Id:
rs141512525
ExAC:
17:78188371 G / GT
gnomAD v2:
17-78188371-G-GT
gnomAD v3:
17-80214572-G-GT
gnomAD v4:
17-80214572-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80214573dup , CM000679.2:g.80214573dup | GRCh38 |
| NC_000017.10:g.78188372dup , CM000679.1:g.78188372dup | GRCh37 |
| NC_000017.9:g.75802967dup | NCBI36 |
| NG_008229.1:g.10828dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703570.1:n.2845-1293dup (CARD14) | ||
| ENST00000326317.11:c.506+42dup (SGSH) MANE Select | ENSP00000314606.6:n.506+42dup | |
| ENST00000326317.10:c.506+42dup (SGSH) | ENSP00000314606.6:n.506+42dup | |
| ENST00000570427.1:c.524+42dup (SGSH) | ENSP00000459765.1:n.524+42dup | |
| ENST00000570923.1:c.541+42dup (SGSH) | ENSP00000458200.1:n.541+42dup | |
| ENST00000571051.5:n.376-245dup (SGSH) | ||
| ENST00000571675.5:n.568dup (SGSH) | ||
| ENST00000572208.5:n.374-245dup (SGSH) | ||
| ENST00000572257.5:c.108+42dup (SGSH) | ||
| ENST00000573150.5:c.400+42dup (SGSH) | ENSP00000459280.1:n.400+42dup | |
| ENST00000574505.5:c.365+42dup (SGSH) | ||
| ENST00000575282.5:n.515+42dup (SGSH) | ||
| ENST00000576707.5:c.245+42dup (SGSH) | ENSP00000461128.1:n.245+42dup | |
| ENST00000576941.5:c.250-245dup (SGSH) | ENSP00000461160.1:n.250-245dup | |
| NM_000199.3:c.506+42dup (SGSH) | NP_000190.1:n.506+42dup | |
| XM_005257582.2:c.506+42dup (SGSH) | XP_005257639.1:n.506+42dup | |
| XM_005257583.3:c.506+42dup (SGSH) | XP_005257640.1:n.506+42dup | |
| XM_011525126.1:c.506+42dup (SGSH) | XP_011523428.1:n.506+42dup | |
| XM_011525127.1:c.506+42dup (SGSH) | XP_011523429.1:n.506+42dup | |
| XR_934532.1:n.526+42dup (SGSH) | ||
| NM_000199.4:c.506+42dup (SGSH) | NP_000190.1:n.506+42dup | |
| NM_001352921.1:c.506+42dup (SGSH) | NP_001339850.1:n.506+42dup | |
| NM_001352922.1:c.506+42dup (SGSH) | NP_001339851.1:n.506+42dup | |
| NR_148201.1:n.487+42dup (SGSH) | ||
| XM_005257583.4:c.506+42dup (SGSH) | XP_005257640.1:n.506+42dup | |
| XM_017024952.1:c.506+42dup (SGSH) | XP_016880441.1:n.506+42dup | |
| XR_001752585.1:n.526+42dup (SGSH) | ||
| XR_001752586.1:n.526+42dup (SGSH) | ||
| XR_001752587.1:n.526+42dup (SGSH) | ||
| XR_001752588.1:n.526+42dup (SGSH) | ||
| XR_001752589.1:n.526+42dup (SGSH) | ||
| XR_001752590.1:n.526+42dup (SGSH) | ||
| XR_001752591.1:n.526+42dup (SGSH) | ||
| XR_001752592.1:n.526+42dup (SGSH) | ||
| XR_002958057.1:n.526+42dup (SGSH) | ||
| XR_934532.2:n.526+42dup (SGSH) | ||
| NM_000199.5:c.506+42dup (SGSH) MANE Select | NP_000190.1:n.506+42dup | |
| NM_001352921.2:c.506+42dup (SGSH) | NP_001339850.1:n.506+42dup | |
| NM_001352922.2:c.506+42dup (SGSH) | NP_001339851.1:n.506+42dup | |
| NR_148201.2:n.420+42dup (SGSH) | ||
| NM_001352921.3:c.506+42dup (SGSH) | NP_001339850.1:n.506+42dup |