Linked Data
ClinVar Variation Id:
2664103
ClinVar RCV Id:
RCV003445249
dbSNP Id:
rs767052015
ExAC:
9:37429734 GC / G
gnomAD v2:
9-37429734-GC-G
gnomAD v4:
9-37429737-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37429739del , CM000671.2:g.37429739del | GRCh38 |
| NC_000009.11:g.37429736del , CM000671.1:g.37429736del | GRCh37 |
| NC_000009.10:g.37419736del | NCBI36 |
| NG_008135.1:g.12030del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.501del MANE Select | ENSP00000313432.6:p.Ile168LeufsTer5 | |
| ENST00000318158.10:c.501del | ENSP00000313432.6:p.Ile168LeufsTer5 | |
| ENST00000377824.8:n.538del | ||
| ENST00000460882.5:n.528del | ||
| ENST00000480596.5:n.1202del | ||
| ENST00000491488.5:n.206del | ||
| ENST00000494290.1:c.72del | ENSP00000432021.1:p.Ile25LeufsTer5 | |
| ENST00000497693.1:n.2034del | ||
| ENST00000607784.1:c.501del | ENSP00000475569.1:p.Ile168LeufsTer5 | |
| NM_012203.1:c.501del | NP_036335.1:p.Ile168LeufsTer5 | |
| XM_005251631.1:c.180del | XP_005251688.1:p.Ile61LeufsTer5 | |
| XM_011518073.1:c.99del | XP_011516375.1:p.Ile34LeufsTer5 | |
| XR_929374.1:n.946del | ||
| XM_017015320.2:c.501del | XP_016870809.1:p.Ile168LeufsTer5 | |
| XM_017015321.2:c.501del | XP_016870810.1:p.Ile168LeufsTer5 | |
| XM_017015323.2:c.99del | XP_016870812.1:p.Ile34LeufsTer5 | |
| XM_024447716.1:c.774del | XP_024303484.1:p.Ile259LeufsTer5 | |
| XM_024447717.1:c.774del | XP_024303485.1:p.Ile259LeufsTer5 | |
| XR_002956828.1:n.789del | ||
| XR_002956829.1:n.789del | ||
| XR_002956830.1:n.560del | ||
| XR_002956831.1:n.235del | ||
| XR_002956832.1:n.920del | ||
| NM_012203.2:c.501del MANE Select | NP_036335.1:p.Ile168LeufsTer5 |