Linked Data
ClinVar Variation Id:
3038280
ClinVar RCV Id:
RCV003919760
dbSNP Id:
rs41303343
ExAC:
7:99250393 T / TA
gnomAD v2:
7-99250393-T-TA
gnomAD v3:
7-99652770-T-TA
gnomAD v4:
7-99652770-T-TA
COSMIC:
COSM1683396
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99652771dup , CM000669.2:g.99652771dup | GRCh38 |
| NC_000007.13:g.99250394dup , CM000669.1:g.99250394dup | GRCh37 |
| NC_000007.12:g.99088330dup | NCBI36 |
| NG_007938.1:g.32228dup | |
| NG_007938.2:g.32228dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646887.1:c.*720dup (CYP3A5) | ENSP00000496704.1:n.*720dup | |
| ENST00000222982.8:c.1035dup (CYP3A5) MANE Select | ENSP00000222982.4:p.Thr346TyrfsTer3 | |
| ENST00000339843.6:c.*2519dup (CYP3A5) | ENSP00000343074.2:n.*2519dup | |
| ENST00000461920.5:n.1627dup (CYP3A5) | ||
| ENST00000469887.5:n.2568dup (CYP3A5) | ||
| ENST00000488187.1:n.113dup (CYP3A5) | ||
| NM_000777.4:c.1035dup (CYP3A5) | NP_000768.1:p.Thr346TyrfsTer3 | |
| NM_001291829.1:c.696dup (CYP3A5) | NP_001278758.1:p.Thr233TyrfsTer3 | |
| NM_001291830.1:c.1005dup (CYP3A5) | NP_001278759.1:p.Thr336TyrfsTer3 | |
| NR_033807.2:n.2769dup (CYP3A5) | ||
| XM_011515843.1:c.696dup (CYP3A5) | XP_011514145.1:p.Thr233TyrfsTer3 | |
| XM_011515844.1:c.696dup (CYP3A5) | XP_011514146.1:p.Thr233TyrfsTer3 | |
| XM_011515845.1:c.495dup (CYP3A5) | XP_011514147.1:p.Thr166TyrfsTer3 | |
| XM_011515846.1:c.495dup (CYP3A5) | XP_011514148.1:p.Thr166TyrfsTer3 | |
| XM_011515847.1:c.495dup (CYP3A5) | XP_011514149.1:p.Thr166TyrfsTer3 | |
| XM_011515909.1:c.806-16324dup (ZSCAN25) | XP_011514211.1:n.806-16324dup | |
| XR_927402.1:n.1466+28591dup (ZSCAN25) | ||
| NM_000777.5:c.1035dup (CYP3A5) MANE Select | NP_000768.1:p.Thr346TyrfsTer3 | |
| NM_001350984.1:c.806-16324dup (ZSCAN25) | NP_001337913.1:n.806-16324dup | |
| NM_001350985.1:c.806-16324dup (ZSCAN25) | NP_001337914.1:n.806-16324dup | |
| XM_011515909.2:c.806-16324dup (ZSCAN25) | XP_011514211.1:n.806-16324dup | |
| XR_927402.2:n.1465+28591dup (ZSCAN25) | ||
| NM_001291829.2:c.696dup (CYP3A5) | NP_001278758.1:p.Thr233TyrfsTer3 | |
| NM_001291830.2:c.1005dup (CYP3A5) | NP_001278759.1:p.Thr336TyrfsTer3 | |
| NM_001350984.2:c.806-16324dup (ZSCAN25) | NP_001337913.1:n.806-16324dup | |
| NM_001350985.2:c.806-16324dup (ZSCAN25) | NP_001337914.1:n.806-16324dup | |
| NR_033807.3:n.2739dup (CYP3A5) |