Linked Data
ClinVar Variation Id:
950447
ClinVar RCV Id:
RCV001222159
dbSNP Id:
rs761730239
gnomAD v3:
5-140114286-T-TGGCGGCGGG
gnomAD v4:
5-140114286-T-TGGCGGCGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114295_140114303dup , CM000667.2:g.140114295_140114303dup | GRCh38 |
| NC_000005.9:g.139493880_139493888dup , CM000667.1:g.139493880_139493888dup | GRCh37 |
| NC_000005.8:g.139474064_139474072dup | NCBI36 |
| NG_041813.1:g.5173_5181dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.114_122dup MANE Select | ENSP00000332706.3:p.Gly41_Gly42insGlyGlyGly | |
| ENST00000505703.2:c.114_122dup | ENSP00000498560.1:p.Gly41_Gly42insGlyGlyGly | |
| ENST00000651386.1:c.114_122dup | ENSP00000499133.1:p.Gly41_Gly42insGlyGlyGly | |
| ENST00000331327.4:c.114_122dup | ENSP00000332706.3:p.Gly41_Gly42insGlyGlyGly | |
| ENST00000505703.1:n.579_587dup | ||
| NM_005859.4:c.114_122dup | NP_005850.1:p.Gly41_Gly42insGlyGlyGly | |
| NM_005859.5:c.114_122dup MANE Select | NP_005850.1:p.Gly41_Gly42insGlyGlyGly |