Linked Data
dbSNP Id:
rs963295016
gnomAD v2:
2-114004076-GAGA-G
gnomAD v3:
2-113246499-GAGA-G
gnomAD v4:
2-113246499-GAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113246505_113246507del , CM000664.2:g.113246505_113246507del | GRCh38 |
| NC_000002.11:g.114004082_114004084del , CM000664.1:g.114004082_114004084del | GRCh37 |
| NC_000002.10:g.113720552_113720554del | NCBI36 |
| NG_012384.1:g.37420_37422del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000468980.4:c.191+252_191+254del (PAX8) | ENSP00000451240.2:n.191+252_191+254del | |
| ENST00000429538.8:c.191+252_191+254del (PAX8) MANE Select | ENSP00000395498.3:n.191+252_191+254del | |
| ENST00000681162.1:c.191+252_191+254del (PAX8) | ENSP00000505425.1:n.191+252_191+254del | |
| ENST00000263334.9:c.191+252_191+254del (PAX8) | ENSP00000263334.6:n.191+252_191+254del | |
| ENST00000263335.11:c.191+252_191+254del (PAX8) | ENSP00000263335.7:n.191+252_191+254del | |
| ENST00000348715.9:c.191+252_191+254del (PAX8) | ENSP00000314750.5:n.191+252_191+254del | |
| ENST00000397647.7:c.191+252_191+254del (PAX8) | ENSP00000380768.3:n.191+252_191+254del | |
| ENST00000429538.7:c.191+252_191+254del (PAX8) | ENSP00000395498.3:n.191+252_191+254del | |
| ENST00000467778.5:n.355+252_355+254del (PAX8) | ||
| ENST00000554830.2:c.-40-3724_-40-3722del (PAX8) | ENSP00000451213.2:n.-40-3724_-40-3722del | |
| NM_003466.3:c.191+252_191+254del (PAX8) | NP_003457.1:n.191+252_191+254del | |
| NM_013952.3:c.191+252_191+254del (PAX8) | NP_039246.1:n.191+252_191+254del | |
| NM_013953.3:c.191+252_191+254del (PAX8) | NP_039247.1:n.191+252_191+254del | |
| NM_013992.3:c.191+252_191+254del (PAX8) | NP_054698.1:n.191+252_191+254del | |
| NR_015377.2:n.355-4262_355-4260del (PAX8-AS1) | ||
| XM_011511790.1:c.359+252_359+254del (PAX8) | XP_011510092.1:n.359+252_359+254del | |
| XM_011511791.1:c.359+252_359+254del (PAX8) | XP_011510093.1:n.359+252_359+254del | |
| XM_011511792.1:c.359+252_359+254del (PAX8) | XP_011510094.1:n.359+252_359+254del | |
| XM_011511793.1:c.359+252_359+254del (PAX8) | XP_011510095.1:n.359+252_359+254del | |
| XM_011511794.1:c.191+252_191+254del (PAX8) | XP_011510096.1:n.191+252_191+254del | |
| XR_923021.1:n.386+252_386+254del (PAX8) | ||
| NM_003466.4:c.191+252_191+254del (PAX8) MANE Select | NP_003457.1:n.191+252_191+254del | |
| NM_013952.4:c.191+252_191+254del (PAX8) | NP_039246.1:n.191+252_191+254del | |
| NM_013953.4:c.191+252_191+254del (PAX8) | NP_039247.1:n.191+252_191+254del | |
| NM_013992.4:c.191+252_191+254del (PAX8) | NP_054698.1:n.191+252_191+254del |