Linked Data
dbSNP Id:
rs754785091
ExAC:
2:149225888 CT / C
gnomAD v3:
2-148468319-CT-C
gnomAD v4:
2-148468319-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.148468326del , CM000664.2:g.148468326del | GRCh38 |
| NC_000002.11:g.149225895del , CM000664.1:g.149225895del | GRCh37 |
| NC_000002.10:g.148942365del | NCBI36 |
| NG_017003.1:g.452316del | |
| NG_017003.2:g.452316del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638043.2:c.398-15del | ENSP00000490728.2:n.398-15del | |
| ENST00000642680.2:c.398-15del MANE Select | ENSP00000493871.2:n.398-15del | |
| ENST00000404807.5:c.398-15del | ENSP00000384672.1:n.398-15del | |
| ENST00000407073.5:c.398-15del | ENSP00000386049.1:n.398-15del | |
| ENST00000627651.2:c.398-15del | ENSP00000486370.1:n.398-15del | |
| ENST00000629878.2:c.398-15del | ENSP00000487089.1:n.398-15del | |
| NM_018328.4:c.398-15del | NP_060798.2:n.398-15del | |
| XM_005263711.2:c.398-15del | XP_005263768.1:n.398-15del | |
| XM_011511470.1:c.398-15del | XP_011509772.1:n.398-15del | |
| XM_011511471.1:c.398-15del | XP_011509773.1:n.398-15del | |
| XM_011511472.1:c.398-15del | XP_011509774.1:n.398-15del | |
| XM_011511473.1:c.398-15del | XP_011509775.1:n.398-15del | |
| XM_011511474.1:c.398-15del | XP_011509776.1:n.398-15del | |
| XM_011511475.1:c.398-15del | XP_011509777.1:n.398-15del | |
| XM_011511476.1:c.398-15del | XP_011509778.1:n.398-15del | |
| XR_922967.1:n.1627-15del | ||
| XM_011511470.2:c.398-15del | XP_011509772.1:n.398-15del | |
| XM_011511472.2:c.398-15del | XP_011509774.1:n.398-15del | |
| XM_024452987.1:c.398-15del | XP_024308755.1:n.398-15del | |
| XM_024452988.1:c.398-15del | XP_024308756.1:n.398-15del | |
| XM_024452989.1:c.398-15del | XP_024308757.1:n.398-15del | |
| XM_024452990.1:c.398-15del | XP_024308758.1:n.398-15del | |
| XR_002959318.1:n.710-15del | ||
| XR_002959319.1:n.710-15del | ||
| NM_001378120.1:c.398-15del MANE Select | NP_001365049.1:n.398-15del | |
| NM_018328.5:c.398-15del | NP_060798.2:n.398-15del |