Linked Data
ClinVar Variation Id:
334977
dbSNP Id:
rs530814490
ExAC:
2:233400165 T / TGA
gnomAD v2:
2-233400165-T-TGA
gnomAD v3:
2-232535455-T-TGA
gnomAD v4:
2-232535455-T-TGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232535456_232535457insAG , CM000664.2:g.232535456_232535457insAG | GRCh38 |
| NC_000002.11:g.233400166_233400167insAG , CM000664.1:g.233400166_233400167insAG | GRCh37 |
| NC_000002.10:g.233108410_233108411insAG | NCBI36 |
| NG_008028.1:g.14245_14246insAG | |
| NG_012954.1:g.730_731insAG | |
| NG_012954.2:g.765_766insAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258385.8:c.*144_*145insAG MANE Select | ENSP00000258385.3:n.*144_*145insAG | |
| ENST00000258385.7:c.*144_*145insAG | ENSP00000258385.3:n.*144_*145insAG | |
| ENST00000441621.6:c.*880_*881insAG | ENSP00000408819.2:n.*880_*881insAG | |
| ENST00000543200.5:c.*144_*145insAG | ENSP00000438380.1:n.*144_*145insAG | |
| NM_000751.2:c.*144_*145insAG | NP_000742.1:n.*144_*145insAG | |
| NM_001256657.1:c.*144_*145insAG | NP_001243586.1:n.*144_*145insAG | |
| NM_001311195.1:c.*144_*145insAG | NP_001298124.1:n.*144_*145insAG | |
| NM_001311196.1:c.*144_*145insAG | NP_001298125.1:n.*144_*145insAG | |
| NR_046333.1:c.-4294965853_-4294965852insAG | ||
| NR_046334.1:c.-4294965574_-4294965573insAG | ||
| XM_011510524.1:c.*144_*145insAG | XP_011508826.1:n.*144_*145insAG | |
| XM_011510524.2:c.*144_*145insAG | XP_011508826.1:n.*144_*145insAG | |
| NM_000751.3:c.*144_*145insAG MANE Select | NP_000742.1:n.*144_*145insAG | |
| NM_001311195.2:c.*144_*145insAG | NP_001298124.1:n.*144_*145insAG | |
| NM_001311196.2:c.*144_*145insAG | NP_001298125.1:n.*144_*145insAG | |
| NM_001256657.2:c.*144_*145insAG | NP_001243586.1:n.*144_*145insAG |