Linked Data
ClinVar Variation Id:
190171
dbSNP Id:
rs765825423
ExAC:
10:50669427 CCT / C
gnomAD v2:
10-50669427-CCT-C
gnomAD v3:
10-49461381-CCT-C
gnomAD v4:
10-49461381-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461382_49461383del , CM000672.2:g.49461382_49461383del | GRCh38 |
| NC_000010.10:g.50669428_50669429del , CM000672.1:g.50669428_50669429del | GRCh37 |
| NC_000010.9:g.50339434_50339435del | NCBI36 |
| NG_009442.1:g.82719_82720del , LRG_465:g.82719_82720del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.3952_3953del MANE Select | ENSP00000348089.5:p.Arg1318GlyfsTer12 | |
| ENST00000679552.1:n.1023_1024del | ||
| ENST00000679871.1:n.1098_1099del | ||
| ENST00000679974.1:n.1001_1002del | ||
| ENST00000681632.1:n.5355_5356del | ||
| ENST00000681659.1:c.3793_3794del | ENSP00000505631.1:p.Arg1265GlyfsTer12 | |
| ENST00000355832.9:c.3952_3953del | ENSP00000348089.5:p.Arg1318GlyfsTer12 | |
| ENST00000465653.1:n.274_275del | ||
| ENST00000623073.3:c.*2248_*2249del | ENSP00000485650.1:n.*2248_*2249del | |
| ENST00000623115.3:c.2062_2063del | ENSP00000485321.1:p.Arg688GlyfsTer12 | |
| ENST00000624341.3:c.1784_1785del | ||
| NM_000124.3:c.3952_3953del | NP_000115.1:p.Arg1318GlyfsTer12 | |
| XR_945953.1:n.243-10183_243-10182del | ||
| NM_001346440.1:c.3952_3953del | NP_001333369.1:p.Arg1318GlyfsTer12 | |
| NM_000124.4:c.3952_3953del MANE Select | NP_000115.1:p.Arg1318GlyfsTer12 | |
| NM_001346440.2:c.3952_3953del | NP_001333369.1:p.Arg1318GlyfsTer12 |