Linked Data
dbSNP Id:
rs180177321
ExAC:
9:37432131 CTG / C
gnomAD v2:
9-37432131-CTG-C
gnomAD v3:
9-37432134-CTG-C
gnomAD v4:
9-37432134-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37432137_37432138del , CM000671.2:g.37432137_37432138del | GRCh38 |
| NC_000009.11:g.37432134_37432135del , CM000671.1:g.37432134_37432135del | GRCh37 |
| NC_000009.10:g.37422134_37422135del | NCBI36 |
| NG_008135.1:g.14428_14429del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318158.11:c.864_865del MANE Select | ENSP00000313432.6:p.Val289AspfsTer22 | |
| ENST00000318158.10:c.864_865del | ENSP00000313432.6:p.Val289AspfsTer22 | |
| ENST00000460882.5:n.891_892del | ||
| ENST00000480596.5:n.1565_1566del | ||
| ENST00000482603.1:n.317_318del | ||
| ENST00000491488.5:n.569_570del | ||
| ENST00000494290.1:c.*51+986_*51+987del | ENSP00000432021.1:n.*51+986_*51+987del | |
| ENST00000497693.1:n.4432_4433del | ||
| ENST00000512404.2:n.51_52del | ||
| ENST00000607784.1:c.864_865del | ENSP00000475569.1:p.Cys288TrpfsTer27 | |
| NM_012203.1:c.864_865del | NP_036335.1:p.Val289AspfsTer22 | |
| XM_005251631.1:c.543_544del | XP_005251688.1:p.Val182AspfsTer22 | |
| XM_011518073.1:c.462_463del | XP_011516375.1:p.Val155AspfsTer22 | |
| XM_017015320.2:c.864_865del | XP_016870809.1:p.Cys288Ter | |
| XM_017015321.2:c.864_865del | XP_016870810.1:p.Cys288Ter | |
| XM_017015323.2:c.462_463del | XP_016870812.1:p.Cys154Ter | |
| XM_024447716.1:c.1137_1138del | XP_024303484.1:p.Cys379Ter | |
| XM_024447717.1:c.1137_1138del | XP_024303485.1:p.Cys379Ter | |
| XR_002956828.1:n.1152_1153del | ||
| XR_002956829.1:n.1152_1153del | ||
| XR_002956830.1:n.2284_2285del | ||
| XR_002956831.1:n.1959_1960del | ||
| XR_002956832.1:n.1283_1284del | ||
| NM_012203.2:c.864_865del MANE Select | NP_036335.1:p.Val289AspfsTer22 |