Linked Data
ClinVar Variation Id:
1679026
ClinVar RCV Id:
RCV002226339
dbSNP Id:
rs2106112637
gnomAD v4:
2-214781482-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214781485_214781486del , CM000664.2:g.214781485_214781486del | GRCh38 |
| NC_000002.11:g.215646209_215646210del , CM000664.1:g.215646209_215646210del | GRCh37 |
| NC_000002.10:g.215354454_215354455del | NCBI36 |
| NG_012047.2:g.33221_33222del | |
| NG_012047.3:g.33228_33229del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.390_391del MANE Select | ENSP00000260947.4:p.Ser131PhefsTer3 | |
| ENST00000421162.2:c.215+15577_215+15578del | ENSP00000392245.2:n.215+15577_215+15578del | |
| ENST00000613192.2:c.158+27928_158+27929del | ENSP00000483275.2:n.158+27928_158+27929del | |
| ENST00000613374.5:c.158+27928_158+27929del | ENSP00000484464.1:n.158+27928_158+27929del | |
| ENST00000613706.5:c.390_391del | ENSP00000484976.2:p.Ser131PhefsTer3 | |
| ENST00000617164.5:c.333_334del | ENSP00000480470.1:p.Ser112PhefsTer3 | |
| ENST00000619009.5:c.364+10813_364+10814del | ENSP00000482293.1:n.364+10813_364+10814del | |
| ENST00000650978.1:c.232_233del | ||
| ENST00000260947.8:c.390_391del | ENSP00000260947.4:p.Ser131PhefsTer3 | |
| ENST00000421162.1:c.215+15577_215+15578del | ENSP00000392245.1:n.215+15577_215+15578del | |
| ENST00000455743.5:c.*10_*11del | ENSP00000412186.1:n.*10_*11del | |
| ENST00000471787.1:n.285_286del | ||
| ENST00000613192.1:c.73+27928_73+27929del | ENSP00000483275.1:n.73+27928_73+27929del | |
| ENST00000613374.4:c.158+27928_158+27929del | ENSP00000484464.1:n.158+27928_158+27929del | |
| ENST00000613706.4:c.215+15577_215+15578del | ENSP00000484976.1:n.215+15577_215+15578del | |
| ENST00000617164.4:c.333_334del | ENSP00000480470.1:p.Ser112PhefsTer3 | |
| ENST00000619009.4:c.364+10813_364+10814del | ENSP00000482293.1:n.364+10813_364+10814del | |
| ENST00000620057.4:c.364+10813_364+10814del | ENSP00000481988.1:n.364+10813_364+10814del | |
| NM_000465.3:c.390_391del | NP_000456.2:p.Ser131PhefsTer3 | |
| NM_001282543.1:c.333_334del | NP_001269472.1:p.Ser112PhefsTer3 | |
| NM_001282545.1:c.215+15577_215+15578del | NP_001269474.1:n.215+15577_215+15578del | |
| NM_001282548.1:c.158+27928_158+27929del | NP_001269477.1:n.158+27928_158+27929del | |
| NM_001282549.1:c.364+10813_364+10814del | NP_001269478.1:n.364+10813_364+10814del | |
| NR_104212.1:n.383_384del | ||
| NR_104215.1:n.326_327del | ||
| NR_104216.1:n.506+10813_506+10814del | ||
| XM_011511567.1:c.336_337del | XP_011509869.1:p.Ser113PhefsTer3 | |
| XM_011511568.1:c.390_391del | XP_011509870.1:p.Ser131PhefsTer3 | |
| XM_017004613.1:c.489_490del | XP_016860102.1:p.Ser164PhefsTer3 | |
| XM_017004614.1:c.489_490del | XP_016860103.1:p.Ser164PhefsTer3 | |
| XR_002959322.1:n.580_581del | ||
| NM_000465.4:c.390_391del MANE Select | NP_000456.2:p.Ser131PhefsTer3 | |
| NM_001282543.2:c.333_334del | NP_001269472.1:p.Ser112PhefsTer3 | |
| NM_001282545.2:c.215+15577_215+15578del | NP_001269474.1:n.215+15577_215+15578del | |
| NM_001282548.2:c.158+27928_158+27929del | NP_001269477.1:n.158+27928_158+27929del | |
| NM_001282549.2:c.364+10813_364+10814del | NP_001269478.1:n.364+10813_364+10814del | |
| NR_104212.2:n.355_356del | ||
| NR_104215.2:n.298_299del | ||
| NR_104216.2:n.478+10813_478+10814del |