Linked Data
ClinVar Variation Id:
372285
dbSNP Id:
rs757613817
ExAC:
8:126194424 AT / A
gnomAD v2:
8-126194424-AT-A
gnomAD v3:
8-125182182-AT-A
gnomAD v4:
8-125182182-AT-A
MyVariant Identifiers:
chr8:g.126194426del (hg19)
chr8:g.126194425del (hg19)
chr8:g.125182184del (hg38)
chr8:g.125182183del (hg38)
PubMed:
PMID:25105364
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.125182184del , CM000670.2:g.125182184del | GRCh38 |
| NC_000008.10:g.126194426del , CM000670.1:g.126194426del | GRCh37 |
| NC_000008.9:g.126263608del | NCBI36 |
| NG_053069.1:g.95367del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287437.8:c.346del MANE Select | ENSP00000287437.3:p.Ser116LeufsTer18 | |
| ENST00000287437.7:c.346del | ENSP00000287437.3:p.Ser116LeufsTer18 | |
| ENST00000517315.1:c.166del | ENSP00000428846.1:p.Ser56LeufsTer18 | |
| ENST00000517532.5:c.346del | ENSP00000429612.1:p.Ser116LeufsTer18 | |
| ENST00000518146.5:c.*245del | ENSP00000430313.1:n.*245del | |
| ENST00000519010.5:c.346del | ENSP00000481615.1:p.Ser116LeufsTer18 | |
| ENST00000519712.1:c.418del | ENSP00000429014.1:n.418del | |
| ENST00000520866.5:c.346del | ENSP00000478256.1:p.Ser116LeufsTer18 | |
| ENST00000522563.5:c.346del | ENSP00000430668.1:p.Ser116LeufsTer18 | |
| ENST00000523741.5:c.346del | ENSP00000429383.1:p.Ser116LeufsTer18 | |
| NM_173685.2:c.346del | NP_775956.1:p.Ser116LeufsTer18 | |
| XM_005250875.2:c.346del | XP_005250932.1:p.Ser116LeufsTer18 | |
| XM_005250876.3:c.346del | XP_005250933.1:p.Ser116LeufsTer18 | |
| XM_011516974.1:c.346del | XP_011515276.1:p.Ser116LeufsTer18 | |
| XM_011516975.1:c.346del | XP_011515277.1:p.Ser116LeufsTer18 | |
| NM_001349485.1:c.346del | NP_001336414.1:p.Ser116LeufsTer18 | |
| NM_001349486.1:c.346del | NP_001336415.1:p.Ser116LeufsTer18 | |
| NM_001349487.1:c.346del | NP_001336416.1:p.Ser116LeufsTer18 | |
| NM_173685.3:c.346del | NP_775956.1:p.Ser116LeufsTer18 | |
| NR_146191.1:n.728del | ||
| NR_146192.1:n.728del | ||
| XM_011516974.2:c.346del | XP_011515276.1:p.Ser116LeufsTer18 | |
| XM_011516975.2:c.346del | XP_011515277.1:p.Ser116LeufsTer18 | |
| XM_017013330.2:c.352del | XP_016868819.1:p.Ser118LeufsTer18 | |
| XM_017013331.1:c.346del | XP_016868820.1:p.Ser116LeufsTer18 | |
| XM_017013332.2:c.352del | XP_016868821.1:p.Ser118LeufsTer18 | |
| XM_017013333.1:c.166del | XP_016868822.1:p.Ser56LeufsTer18 | |
| XM_017013334.1:c.352del | XP_016868823.1:p.Ser118LeufsTer18 | |
| XM_024447130.1:c.346del | XP_024302898.1:p.Ser116LeufsTer18 | |
| NM_173685.4:c.346del MANE Select | NP_775956.1:p.Ser116LeufsTer18 | |
| NM_001349485.2:c.346del | NP_001336414.1:p.Ser116LeufsTer18 | |
| NM_001349486.2:c.346del | NP_001336415.1:p.Ser116LeufsTer18 | |
| NM_001349487.2:c.346del | NP_001336416.1:p.Ser116LeufsTer18 | |
| NR_146191.2:n.691del | ||
| NR_146192.2:n.691del |