Linked Data
dbSNP Id:
rs1553350752
gnomAD v3:
2-39712085-T-TGTGTGTGTGTGTG
gnomAD v4:
2-39712085-T-TGTGTGTGTGTGTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39712085_39712086insGTGTGTGTGTGTG , CM000664.2:g.39712085_39712086insGTGTGTGTGTGTG | GRCh38 |
| NC_000002.11:g.39939225_39939226insGTGTGTGTGTGTG , CM000664.1:g.39939225_39939226insGTGTGTGTGTGTG | GRCh37 |
| NC_000002.10:g.39792729_39792730insGTGTGTGTGTGTG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281961.3:c.652+4899_652+4900insGTGTGTGTGTGTG MANE Select | ENSP00000281961.2:n.652+4899_652+4900insGTGTGTGTGTGTG | |
| ENST00000281961.2:c.652+4899_652+4900insGTGTGTGTGTGTG | ENSP00000281961.2:n.652+4899_652+4900insGTGTGTGTGTGTG | |
| ENST00000413011.5:n.371+4899_371+4900insGTGTGTGTGTGTG | ||
| ENST00000482239.5:n.395+4899_395+4900insGTGTGTGTGTGTG | ||
| ENST00000495402.1:n.431+4899_431+4900insGTGTGTGTGTGTG | ||
| ENST00000618232.1:c.*42-4925_*42-4924insGTGTGTGTGTGTG | ENSP00000477622.1:n.*42-4925_*42-4924insGTGTGTGTGTGTG | |
| NM_001167959.1:c.106+4899_106+4900insGTGTGTGTGTGTG | NP_001161431.1:n.106+4899_106+4900insGTGTGTGTGTGTG | |
| NM_152390.2:c.652+4899_652+4900insGTGTGTGTGTGTG | NP_689603.2:n.652+4899_652+4900insGTGTGTGTGTGTG | |
| XM_005264144.1:c.515-4925_515-4924insGTGTGTGTGTGTG | XP_005264201.1:n.515-4925_515-4924insGTGTGTGTGTGTG | |
| XM_005264145.1:c.401-4925_401-4924insGTGTGTGTGTGTG | XP_005264202.1:n.401-4925_401-4924insGTGTGTGTGTGTG | |
| XM_017003369.1:c.*543_*544insGTGTGTGTGTGTG | XP_016858858.1:n.*543_*544insGTGTGTGTGTGTG | |
| XM_017003370.2:c.106+4899_106+4900insGTGTGTGTGTGTG | XP_016858859.1:n.106+4899_106+4900insGTGTGTGTGTGTG | |
| XM_017003371.1:c.106+4899_106+4900insGTGTGTGTGTGTG | XP_016858860.1:n.106+4899_106+4900insGTGTGTGTGTGTG | |
| XM_024452702.1:c.401-23144_401-23143insGTGTGTGTGTGTG | XP_024308470.1:n.401-23144_401-23143insGTGTGTGTGTGTG | |
| XM_024452703.1:c.106+4899_106+4900insGTGTGTGTGTGTG | XP_024308471.1:n.106+4899_106+4900insGTGTGTGTGTGTG | |
| XM_024452704.1:c.106+4899_106+4900insGTGTGTGTGTGTG | XP_024308472.1:n.106+4899_106+4900insGTGTGTGTGTGTG | |
| XM_024452705.1:c.106+4899_106+4900insGTGTGTGTGTGTG | XP_024308473.1:n.106+4899_106+4900insGTGTGTGTGTGTG | |
| NM_152390.3:c.652+4899_652+4900insGTGTGTGTGTGTG MANE Select | NP_689603.2:n.652+4899_652+4900insGTGTGTGTGTGTG | |
| NM_001167959.2:c.106+4899_106+4900insGTGTGTGTGTGTG | NP_001161431.1:n.106+4899_106+4900insGTGTGTGTGTGTG |