Linked Data
dbSNP Id:
rs1385599617
gnomAD v2:
18-24435529-G-GCCC
gnomAD v3:
18-26855565-G-GCCC
gnomAD v4:
18-26855565-G-GCCC
MyVariant Identifiers:
chr18:g.24435529_24435530insCCC (hg19)
chr18:g.26855565_26855566insCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.26855566_26855567insCCC , CM000680.2:g.26855566_26855567insCCC | GRCh38 |
| NC_000018.9:g.24435530_24435531insCCC , CM000680.1:g.24435530_24435531insCCC | GRCh37 |
| NC_000018.8:g.22689528_22689529insCCC | NCBI36 |
| NG_029560.1:g.15187_15188insGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383168.9:c.*645_*646insGGG MANE Select | ENSP00000372654.4:n.*645_*646insGGG | |
| ENST00000672188.1:c.*645_*646insGGG | ENSP00000500720.1:n.*645_*646insGGG | |
| ENST00000672981.2:c.*558_*559insGGG | ENSP00000500598.2:n.*558_*559insGGG | |
| ENST00000383168.8:c.*645_*646insGGG | ENSP00000372654.4:n.*645_*646insGGG | |
| NM_001650.4:c.*645_*646insGGG | NP_001641.1:n.*645_*646insGGG | |
| NM_004028.3:c.*645_*646insGGG | NP_004019.1:n.*645_*646insGGG | |
| XM_011525942.1:c.*645_*646insGGG | XP_011524244.1:n.*645_*646insGGG | |
| NM_001317384.2:c.*558_*559insGGG | NP_001304313.1:n.*558_*559insGGG | |
| NM_001317387.2:c.*645_*646insGGG | NP_001304316.1:n.*645_*646insGGG | |
| NM_001364286.1:c.*645_*646insGGG | NP_001351215.1:n.*645_*646insGGG | |
| NM_001364287.1:c.*558_*559insGGG | NP_001351216.1:n.*558_*559insGGG | |
| NM_001364289.1:c.*558_*559insGGG | NP_001351218.1:n.*558_*559insGGG | |
| NM_001650.6:c.*645_*646insGGG | NP_001641.1:n.*645_*646insGGG | |
| NM_004028.4:c.*645_*646insGGG | NP_004019.1:n.*645_*646insGGG | |
| XM_011525942.3:c.*645_*646insGGG | XP_011524244.1:n.*645_*646insGGG | |
| NM_001650.7:c.*645_*646insGGG MANE Select | NP_001641.1:n.*645_*646insGGG | |
| NM_001317384.3:c.*558_*559insGGG | NP_001304313.1:n.*558_*559insGGG | |
| NM_001317387.3:c.*645_*646insGGG | NP_001304316.1:n.*645_*646insGGG | |
| NM_001364289.2:c.*558_*559insGGG | NP_001351218.1:n.*558_*559insGGG | |
| NM_004028.5:c.*645_*646insGGG | NP_004019.1:n.*645_*646insGGG |