Linked Data
ClinVar Variation Id:
370752
dbSNP Id:
rs752030611
ExAC:
18:21456306 CG / C
gnomAD v2:
18-21456306-CG-C
gnomAD v4:
18-23876342-CG-C
MyVariant Identifiers:
chr18:g.21456308del (hg19)
chr18:g.21456307del (hg19)
chr18:g.23876344del (hg38)
chr18:g.23876343del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23876344del , CM000680.2:g.23876344del | GRCh38 |
| NC_000018.9:g.21456308del , CM000680.1:g.21456308del | GRCh37 |
| NC_000018.8:g.19710306del | NCBI36 |
| NG_007853.2:g.191747del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269217.11:c.222del MANE Plus Clinical | ENSP00000269217.5:p.Cys75ValfsTer? | |
| ENST00000313654.14:c.5049del MANE Select | ENSP00000324532.8:p.Cys1684ValfsTer? | |
| ENST00000649721.1:c.1941del | ENSP00000497885.1:p.Cys648ValfsTer? | |
| ENST00000269217.10:c.222del | ENSP00000269217.5:p.Cys75ValfsTer? | |
| ENST00000313654.13:c.5049del | ENSP00000324532.8:p.Cys1684ValfsTer? | |
| ENST00000399516.7:c.5049del | ENSP00000382432.2:p.Cys1684ValfsTer? | |
| ENST00000587184.5:c.222del | ENSP00000466557.1:p.Cys75ValfsTer? | |
| NM_000227.4:c.222del | NP_000218.3:p.Cys75ValfsTer? | |
| NM_001127717.2:c.5049del | NP_001121189.2:p.Cys1684ValfsTer? | |
| NM_001127718.2:c.222del | NP_001121190.2:p.Cys75ValfsTer? | |
| NM_198129.2:c.5049del | NP_937762.2:p.Cys1684ValfsTer? | |
| XM_011525978.1:c.5076del | XP_011524280.1:p.Cys1693ValfsTer? | |
| XM_011525979.1:c.5067del | XP_011524281.1:p.Cys1690ValfsTer? | |
| XM_011525980.1:c.5058del | XP_011524282.1:p.Cys1687ValfsTer? | |
| XM_011525981.1:c.4944del | XP_011524283.1:p.Cys1649ValfsTer? | |
| XM_011525982.1:c.5076del | XP_011524284.1:p.Cys1693ValfsTer? | |
| XM_011525978.2:c.5076del | XP_011524280.1:p.Cys1693ValfsTer? | |
| XM_011525979.2:c.5067del | XP_011524281.1:p.Cys1690ValfsTer? | |
| XM_011525980.2:c.5058del | XP_011524282.1:p.Cys1687ValfsTer? | |
| XM_011525981.2:c.4944del | XP_011524283.1:p.Cys1649ValfsTer? | |
| XM_011525982.2:c.5076del | XP_011524284.1:p.Cys1693ValfsTer? | |
| XM_017025743.1:c.2928del | XP_016881232.1:p.Cys977ValfsTer? | |
| XM_017025744.1:c.618del | XP_016881233.1:p.Cys207ValfsTer? | |
| XR_001753199.1:n.5317del | ||
| NM_000227.5:c.222del | NP_000218.3:p.Cys75ValfsTer? | |
| NM_001127717.3:c.5049del | NP_001121189.2:p.Cys1684ValfsTer? | |
| NM_001127718.3:c.222del | NP_001121190.2:p.Cys75ValfsTer? | |
| NM_198129.3:c.5049del | NP_937762.2:p.Cys1684ValfsTer? | |
| NM_000227.6:c.222del MANE Plus Clinical | NP_000218.3:p.Cys75ValfsTer? | |
| NM_001127717.4:c.5049del | NP_001121189.2:p.Cys1684ValfsTer? | |
| NM_001127718.4:c.222del | NP_001121190.2:p.Cys75ValfsTer? | |
| NM_198129.4:c.5049del MANE Select | NP_937762.2:p.Cys1684ValfsTer? |