Linked Data
ClinVar Variation Id:
2657724
dbSNP Id:
rs28383469
ExAC:
7:99273810 T / TC
gnomAD v2:
7-99273810-T-TC
gnomAD v3:
7-99676187-T-TC
gnomAD v4:
7-99676187-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99676189dup , CM000669.2:g.99676189dup | GRCh38 |
| NC_000007.13:g.99273812dup , CM000669.1:g.99273812dup | GRCh37 |
| NC_000007.12:g.99111748dup | NCBI36 |
| NG_007938.1:g.8811dup | |
| NG_007938.2:g.8811dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439761.3:c.92dup (CYP3A5) | ENSP00000401269.1:p.Leu32ThrfsTer3 | |
| ENST00000646887.1:c.92dup (CYP3A5) | ENSP00000496704.1:p.Leu32ThrfsTer3 | |
| ENST00000222982.8:c.92dup (CYP3A5) MANE Select | ENSP00000222982.4:p.Leu32ThrfsTer3 | |
| ENST00000339843.6:c.*340dup (CYP3A5) | ENSP00000343074.2:n.*340dup | |
| ENST00000439761.1:c.92dup (CYP3A5) | ENSP00000401269.1:p.Leu32ThrfsTer3 | |
| ENST00000456417.5:c.*232dup (CYP3A5) | ENSP00000415399.1:n.*232dup | |
| ENST00000461920.5:n.552dup (CYP3A5) | ||
| ENST00000463364.5:n.162dup (CYP3A5) | ||
| ENST00000463907.5:n.192dup (CYP3A5) | ||
| ENST00000466061.5:n.192dup (CYP3A5) | ||
| ENST00000469622.5:n.189dup (CYP3A5) | ||
| ENST00000469887.5:n.389dup (CYP3A5) | ||
| ENST00000480723.5:n.149dup (CYP3A5) | ||
| ENST00000481825.5:n.560dup (CYP3A5) | ||
| ENST00000489231.1:n.189dup (CYP3A5) | ||
| NM_000777.4:c.92dup (CYP3A5) | NP_000768.1:p.Leu32ThrfsTer3 | |
| NM_001190484.2:c.92dup (CYP3A5) | NP_001177413.1:p.Leu32ThrfsTer3 | |
| NM_001291829.1:c.-380dup (CYP3A5) | NP_001278758.1:n.-380dup | |
| NM_001291830.1:c.62dup (CYP3A5) | NP_001278759.1:p.Leu22ThrfsTer3 | |
| NR_033807.2:n.590dup (CYP3A5) | ||
| XM_006715859.2:c.92dup (CYP3A5) | XP_006715922.1:p.Leu32ThrfsTer3 | |
| XM_011515843.1:c.-398dup (CYP3A5) | XP_011514145.1:n.-398dup | |
| XM_011515844.1:c.-356dup (CYP3A5) | XP_011514146.1:n.-356dup | |
| XM_011515845.1:c.-590dup (CYP3A5) | XP_011514147.1:n.-590dup | |
| XM_011515846.1:c.-458dup (CYP3A5) | XP_011514148.1:n.-458dup | |
| XM_011515847.1:c.-698dup (CYP3A5) | XP_011514149.1:n.-698dup | |
| XR_927383.1:n.217dup (CYP3A5) | ||
| XR_927402.1:n.1467-47286dup (ZSCAN25) | ||
| NM_000777.5:c.92dup (CYP3A5) MANE Select | NP_000768.1:p.Leu32ThrfsTer3 | |
| XR_927402.2:n.1466-47286dup (ZSCAN25) | ||
| NM_001190484.3:c.92dup (CYP3A5) | NP_001177413.1:p.Leu32ThrfsTer3 | |
| NM_001291829.2:c.-380dup (CYP3A5) | NP_001278758.1:n.-380dup | |
| NM_001291830.2:c.62dup (CYP3A5) | NP_001278759.1:p.Leu22ThrfsTer3 | |
| NR_033807.3:n.560dup (CYP3A5) |