Linked Data
ClinVar Variation Id:
421002
ClinVar RCV Id:
RCV000479936
dbSNP Id:
rs1291487750
gnomAD v4:
5-127339219-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.127339220dup , CM000667.2:g.127339220dup | GRCh38 |
| NC_000005.9:g.126674912dup , CM000667.1:g.126674912dup | GRCh37 |
| NC_000005.8:g.126702811dup | NCBI36 |
| NG_032072.1:g.53457dup | |
| NG_032072.2:g.53457dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503335.7:c.217dup MANE Select | ENSP00000423354.2:p.Arg73LysfsTer17 | |
| ENST00000274473.6:c.217dup | ENSP00000274473.6:p.Arg73LysfsTer17 | |
| ENST00000418761.6:c.217dup | ENSP00000416284.2:p.Arg73LysfsTer17 | |
| ENST00000503335.6:c.217dup | ENSP00000423354.2:p.Arg73LysfsTer17 | |
| ENST00000508365.5:c.217dup | ENSP00000423195.1:p.Arg73LysfsTer17 | |
| NM_001256545.1:c.217dup | NP_001243474.1:p.Arg73LysfsTer17 | |
| NM_001308119.1:c.217dup | NP_001295048.1:p.Arg73LysfsTer17 | |
| NM_001308121.1:c.217dup | NP_001295050.1:p.Arg73LysfsTer17 | |
| NM_032446.2:c.217dup | NP_115822.1:p.Arg73LysfsTer17 | |
| XM_011543692.1:c.217dup | XP_011541994.1:p.Arg73LysfsTer17 | |
| XM_011543693.1:c.217dup | XP_011541995.1:p.Arg73LysfsTer17 | |
| XM_011543694.1:c.217dup | XP_011541996.1:p.Arg73LysfsTer17 | |
| XM_017009987.1:c.382dup | XP_016865476.1:p.Arg128LysfsTer17 | |
| NM_001256545.2:c.217dup MANE Select | NP_001243474.1:p.Arg73LysfsTer17 | |
| NM_032446.3:c.217dup | NP_115822.1:p.Arg73LysfsTer17 | |
| NM_001308119.2:c.217dup | NP_001295048.1:p.Arg73LysfsTer17 | |
| NM_001308121.2:c.217dup | NP_001295050.1:p.Arg73LysfsTer17 |