Linked Data
ClinVar Variation Id:
12164
dbSNP Id:
rs387906510
gnomAD v2:
6-32006909-GGAGACTAC-G
gnomAD v3:
6-32039132-GGAGACTAC-G
gnomAD v4:
6-32039132-GGAGACTAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039133_32039140del , CM000668.2:g.32039133_32039140del | GRCh38 |
| NC_000006.11:g.32006910_32006917del , CM000668.1:g.32006910_32006917del | GRCh37 |
| NC_000006.10:g.32114889_32114896del | NCBI36 |
| NG_007941.2:g.5826_5833del | |
| NG_007941.3:g.5829_5836del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644719.2:c.332_339del MANE Select | ENSP00000496625.1:p.Gly111ValfsTer21 | |
| ENST00000418967.6:c.332_339del | ENSP00000408860.2:p.Gly111ValfsTer21 | |
| ENST00000435122.3:c.242_249del | ENSP00000415043.2:p.Gly81ValfsTer21 | |
| ENST00000464325.5:n.253_260del | ||
| ENST00000466779.5:c.*24_*31del | ENSP00000417321.1:n.*24_*31del | |
| ENST00000466879.5:n.383_390del | ||
| ENST00000469053.5:c.*24_*31del | ENSP00000418104.1:n.*24_*31del | |
| ENST00000471671.4:c.332_339del | ENSP00000418561.1:p.Gly111ValfsTer21 | |
| ENST00000478281.5:c.365_372del | ENSP00000419572.1:p.Gly122ValfsTer21 | |
| ENST00000479074.5:n.390_397del | ||
| ENST00000479730.5:n.487_494del | ||
| ENST00000483041.5:n.501_508del | ||
| ENST00000486063.5:n.512_519del | ||
| ENST00000488465.1:n.340_347del | ||
| NM_000500.7:c.332_339del | NP_000491.4:p.Gly111ValfsTer21 | |
| NM_001128590.3:c.242_249del | NP_001122062.3:p.Gly81ValfsTer21 | |
| XM_011514314.1:c.-74_-67del | XP_011512616.1:n.-74_-67del | |
| NM_000500.9:c.332_339del MANE Select | NP_000491.4:p.Gly111ValfsTer21 | |
| NM_001368143.1:c.-74_-67del | NP_001355072.1:n.-74_-67del | |
| NM_001368144.1:c.-74_-67del | NP_001355073.1:n.-74_-67del | |
| NM_001128590.4:c.242_249del | NP_001122062.3:p.Gly81ValfsTer21 | |
| NM_001368143.2:c.-74_-67del | NP_001355072.1:n.-74_-67del | |
| NM_001368144.2:c.-74_-67del | NP_001355073.1:n.-74_-67del |