Linked Data
dbSNP Id:
rs1163320193
gnomAD v2:
7-99273795-CAGTCTCTTAAAA-C
gnomAD v4:
7-99676172-CAGTCTCTTAAAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99676177_99676188del , CM000669.2:g.99676177_99676188del | GRCh38 |
| NC_000007.13:g.99273800_99273811del , CM000669.1:g.99273800_99273811del | GRCh37 |
| NC_000007.12:g.99111736_99111747del | NCBI36 |
| NG_007938.1:g.8815_8826del | |
| NG_007938.2:g.8815_8826del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439761.3:c.96_107del (CYP3A5) | ENSP00000401269.1:p.Phe33_Leu36del | |
| ENST00000646887.1:c.96_107del (CYP3A5) | ENSP00000496704.1:p.Phe33_Leu36del | |
| ENST00000222982.8:c.96_107del (CYP3A5) MANE Select | ENSP00000222982.4:p.Phe33_Leu36del | |
| ENST00000339843.6:c.*344_*355del (CYP3A5) | ENSP00000343074.2:n.*344_*355del | |
| ENST00000439761.1:c.96_107del (CYP3A5) | ENSP00000401269.1:p.Phe33_Leu36del | |
| ENST00000456417.5:c.*236_*247del (CYP3A5) | ENSP00000415399.1:n.*236_*247del | |
| ENST00000461920.5:n.556_567del (CYP3A5) | ||
| ENST00000463364.5:n.166_177del (CYP3A5) | ||
| ENST00000463907.5:n.196_207del (CYP3A5) | ||
| ENST00000466061.5:n.196_207del (CYP3A5) | ||
| ENST00000469622.5:n.193_204del (CYP3A5) | ||
| ENST00000469887.5:n.393_404del (CYP3A5) | ||
| ENST00000480723.5:n.153_164del (CYP3A5) | ||
| ENST00000481825.5:n.564_575del (CYP3A5) | ||
| ENST00000489231.1:n.193_204del (CYP3A5) | ||
| NM_000777.4:c.96_107del (CYP3A5) | NP_000768.1:p.Phe33_Leu36del | |
| NM_001190484.2:c.96_107del (CYP3A5) | NP_001177413.1:p.Phe33_Leu36del | |
| NM_001291829.1:c.-376_-365del (CYP3A5) | NP_001278758.1:n.-376_-365del | |
| NM_001291830.1:c.66_77del (CYP3A5) | NP_001278759.1:p.Phe23_Leu26del | |
| NR_033807.2:n.594_605del (CYP3A5) | ||
| XM_006715859.2:c.96_107del (CYP3A5) | XP_006715922.1:p.Phe33_Leu36del | |
| XM_011515843.1:c.-394_-383del (CYP3A5) | XP_011514145.1:n.-394_-383del | |
| XM_011515844.1:c.-352_-341del (CYP3A5) | XP_011514146.1:n.-352_-341del | |
| XM_011515845.1:c.-586_-575del (CYP3A5) | XP_011514147.1:n.-586_-575del | |
| XM_011515846.1:c.-454_-443del (CYP3A5) | XP_011514148.1:n.-454_-443del | |
| XM_011515847.1:c.-694_-683del (CYP3A5) | XP_011514149.1:n.-694_-683del | |
| XR_927383.1:n.221_232del (CYP3A5) | ||
| XR_927402.1:n.1467-47298_1467-47287del (ZSCAN25) | ||
| NM_000777.5:c.96_107del (CYP3A5) MANE Select | NP_000768.1:p.Phe33_Leu36del | |
| XR_927402.2:n.1466-47298_1466-47287del (ZSCAN25) | ||
| NM_001190484.3:c.96_107del (CYP3A5) | NP_001177413.1:p.Phe33_Leu36del | |
| NM_001291829.2:c.-376_-365del (CYP3A5) | NP_001278758.1:n.-376_-365del | |
| NM_001291830.2:c.66_77del (CYP3A5) | NP_001278759.1:p.Phe23_Leu26del | |
| NR_033807.3:n.564_575del (CYP3A5) |