Linked Data
dbSNP Id:
rs1940182418
gnomAD v3:
11-116748752-C-CCAGCA
gnomAD v4:
11-116748752-C-CCAGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116748754_116748755insGCACA , CM000673.2:g.116748754_116748755insGCACA | GRCh38 |
| NC_000011.9:g.116619470_116619471insGCACA , CM000673.1:g.116619470_116619471insGCACA | GRCh37 |
| NC_000011.8:g.116124680_116124681insGCACA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260210.5:c.1767-178_1767-177insTGCTG MANE Select | ENSP00000260210.3:n.1767-178_1767-177insTGCTG | |
| ENST00000260210.4:c.1767-178_1767-177insTGCTG | ENSP00000260210.3:n.1767-178_1767-177insTGCTG | |
| ENST00000375445.7:c.1365-178_1365-177insTGCTG | ENSP00000364594.3:n.1365-178_1365-177insTGCTG | |
| ENST00000419189.1:c.542-178_542-177insTGCTG | ||
| NM_001159736.1:c.1365-178_1365-177insTGCTG | NP_001153208.1:n.1365-178_1365-177insTGCTG | |
| NM_032725.3:c.1767-178_1767-177insTGCTG | NP_116114.1:n.1767-178_1767-177insTGCTG | |
| XM_011543035.1:c.1668-178_1668-177insTGCTG | XP_011541337.1:n.1668-178_1668-177insTGCTG | |
| XM_011543035.2:c.1668-178_1668-177insTGCTG | XP_011541337.1:n.1668-178_1668-177insTGCTG | |
| NM_032725.4:c.1767-178_1767-177insTGCTG MANE Select | NP_116114.1:n.1767-178_1767-177insTGCTG | |
| NM_001159736.2:c.1365-178_1365-177insTGCTG | NP_001153208.1:n.1365-178_1365-177insTGCTG |