Linked Data
dbSNP Id:
rs760957952
ExAC:
5:96122126 T / TC
gnomAD v2:
5-96122126-T-TC
gnomAD v4:
5-96786422-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96786422_96786423insC , CM000667.2:g.96786422_96786423insC | GRCh38 |
| NC_000005.9:g.96122126_96122127insC , CM000667.1:g.96122126_96122127insC | GRCh37 |
| NC_000005.8:g.96147882_96147883insC | NCBI36 |
| NG_027839.1:g.32722_32723insG | |
| NG_027839.2:g.154561_154562insG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000443439.7:c.1759+47_1759+48insG MANE Select | ENSP00000406304.2:n.1759+47_1759+48insG | |
| ENST00000296754.7:c.1759+47_1759+48insG | ENSP00000296754.3:n.1759+47_1759+48insG | |
| ENST00000443439.6:c.1759+47_1759+48insG | ENSP00000406304.2:n.1759+47_1759+48insG | |
| ENST00000507859.1:n.422+47_422+48insG | ||
| ENST00000514604.5:n.183+47_183+48insG | ||
| NM_001040458.1:c.1759+47_1759+48insG | NP_001035548.1:n.1759+47_1759+48insG | |
| NM_001198541.1:c.1759+47_1759+48insG | NP_001185470.1:n.1759+47_1759+48insG | |
| NM_016442.3:c.1759+47_1759+48insG | NP_057526.3:n.1759+47_1759+48insG | |
| XM_005272015.3:c.1759+47_1759+48insG | XP_005272072.1:n.1759+47_1759+48insG | |
| XM_005272016.3:c.1759+47_1759+48insG | XP_005272073.1:n.1759+47_1759+48insG | |
| XM_011543480.1:c.1759+47_1759+48insG | XP_011541782.1:n.1759+47_1759+48insG | |
| XM_011543481.1:c.1759+47_1759+48insG | XP_011541783.1:n.1759+47_1759+48insG | |
| XM_011543482.1:c.1759+47_1759+48insG | XP_011541784.1:n.1759+47_1759+48insG | |
| XM_011543483.1:c.1759+47_1759+48insG | XP_011541785.1:n.1759+47_1759+48insG | |
| XM_011543484.1:c.1759+47_1759+48insG | XP_011541786.1:n.1759+47_1759+48insG | |
| XM_011543485.1:c.1759+47_1759+48insG | XP_011541787.1:n.1759+47_1759+48insG | |
| XM_011543486.1:c.1759+47_1759+48insG | XP_011541788.1:n.1759+47_1759+48insG | |
| XM_011543487.1:c.1759+47_1759+48insG | XP_011541789.1:n.1759+47_1759+48insG | |
| NM_001040458.2:c.1759+47_1759+48insG | NP_001035548.1:n.1759+47_1759+48insG | |
| NM_001198541.2:c.1759+47_1759+48insG | NP_001185470.1:n.1759+47_1759+48insG | |
| NM_001349244.1:c.1759+47_1759+48insG | NP_001336173.1:n.1759+47_1759+48insG | |
| NM_016442.4:c.1759+47_1759+48insG | NP_057526.3:n.1759+47_1759+48insG | |
| XM_005272015.5:c.1759+47_1759+48insG | XP_005272072.1:n.1759+47_1759+48insG | |
| XM_005272016.4:c.1759+47_1759+48insG | XP_005272073.1:n.1759+47_1759+48insG | |
| XM_011543480.2:c.1759+47_1759+48insG | XP_011541782.1:n.1759+47_1759+48insG | |
| XM_011543481.2:c.1759+47_1759+48insG | XP_011541783.1:n.1759+47_1759+48insG | |
| XM_011543484.2:c.1759+47_1759+48insG | XP_011541786.1:n.1759+47_1759+48insG | |
| XM_011543485.2:c.1759+47_1759+48insG | XP_011541787.1:n.1759+47_1759+48insG | |
| XM_011543486.3:c.1759+47_1759+48insG | XP_011541788.1:n.1759+47_1759+48insG | |
| XM_017009581.1:c.1759+47_1759+48insG | XP_016865070.1:n.1759+47_1759+48insG | |
| XM_017009583.2:c.664+47_664+48insG | XP_016865072.1:n.664+47_664+48insG | |
| XM_024446113.1:c.1759+47_1759+48insG | XP_024301881.1:n.1759+47_1759+48insG | |
| XR_001742119.2:n.1897+47_1897+48insG | ||
| NM_001040458.3:c.1759+47_1759+48insG MANE Select | NP_001035548.1:n.1759+47_1759+48insG | |
| NM_001198541.3:c.1759+47_1759+48insG | NP_001185470.1:n.1759+47_1759+48insG | |
| NM_001349244.2:c.1759+47_1759+48insG | NP_001336173.1:n.1759+47_1759+48insG | |
| NM_016442.5:c.1759+47_1759+48insG | NP_057526.3:n.1759+47_1759+48insG |