Linked Data
dbSNP Id:
rs2127891783
gnomAD v3:
6-43650536-T-TGAGTTGG
gnomAD v4:
6-43650536-T-TGAGTTGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43650536_43650537insGAGTTGG , CM000668.2:g.43650536_43650537insGAGTTGG | GRCh38 |
| NC_000006.11:g.43618273_43618274insGAGTTGG , CM000668.1:g.43618273_43618274insGAGTTGG | GRCh37 |
| NC_000006.10:g.43726251_43726252insGAGTTGG | NCBI36 |
| NG_023436.1:g.10507_10508insGAGTTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372163.5:c.389_390insGAGTTGG (RSPH9) MANE Select | ENSP00000361236.4:p.Ile130MetfsTer18 | |
| ENST00000372163.4:c.389_390insGAGTTGG (RSPH9) | ENSP00000361236.4:p.Ile130MetfsTer18 | |
| ENST00000372165.8:c.389_390insGAGTTGG (RSPH9) | ENSP00000361238.4:p.Ile130MetfsTer6 | |
| NM_001193341.1:c.389_390insGAGTTGG (RSPH9) | NP_001180270.1:p.Ile130MetfsTer6 | |
| NM_152732.4:c.389_390insGAGTTGG (RSPH9) | NP_689945.2:p.Ile130MetfsTer18 | |
| XM_005248901.2:c.389_390insGAGTTGG (RSPH9) | XP_005248958.1:p.Ile130MetfsTer18 | |
| XM_006715014.1:c.228-5026_228-5025insGAGTTGG (RSPH9) | XP_006715077.1:n.228-5026_228-5025insGAGTTGG | |
| XM_011514356.1:c.389_390insGAGTTGG (RSPH9) | XP_011512658.1:p.Ile130MetfsTer18 | |
| XR_926099.1:n.424_425insGAGTTGG (RSPH9) | ||
| XM_005248901.3:c.389_390insGAGTTGG (RSPH9) | XP_005248958.1:p.Ile130MetfsTer18 | |
| XR_002956268.1:n.431_432insGAGTTGG (RSPH9) | ||
| XR_002956269.1:n.297-5026_297-5025insGAGTTGG (RSPH9) | ||
| XR_926099.2:n.431_432insGAGTTGG (RSPH9) | ||
| NM_152732.5:c.389_390insGAGTTGG (RSPH9) MANE Select | NP_689945.2:p.Ile130MetfsTer18 | |
| NM_001193341.2:c.389_390insGAGTTGG (RSPH9) | NP_001180270.1:p.Ile130MetfsTer6 | |
| NM_001318876.2:c.945+121265_945+121266insGAGTTGG (POLR1C) | NP_001305805.1:n.945+121265_945+121266insGAGTTGG |