Canonical Allele Identifier: CA10610623
Gene: PAX8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.113216030_113216031dup , CM000664.2:g.113216030_113216031dup GRCh38
NC_000002.11:g.113973607_113973608dup , CM000664.1:g.113973607_113973608dup GRCh37
NC_000002.10:g.113690078_113690079dup NCBI36
NG_012384.1:g.67892_67893dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000429538.8:c.*2503_*2504dup MANE Select ENSP00000395498.3:n.*2503_*2504dup
ENST00000681162.1:c.*2475_*2476dup ENSP00000505425.1:n.*2475_*2476dup
ENST00000263334.9:c.*2503_*2504dup ENSP00000263334.6:n.*2503_*2504dup
ENST00000263335.11:c.*2580_*2581dup ENSP00000263335.7:n.*2580_*2581dup
ENST00000348715.9:c.*2580_*2581dup ENSP00000314750.5:n.*2580_*2581dup
ENST00000397647.7:c.*2580_*2581dup ENSP00000380768.3:n.*2580_*2581dup
ENST00000429538.7:c.*2503_*2504dup ENSP00000395498.3:n.*2503_*2504dup
NM_003466.3:c.*2503_*2504dup NP_003457.1:n.*2503_*2504dup
NM_013952.3:c.*2580_*2581dup NP_039246.1:n.*2580_*2581dup
NM_013953.3:c.*2580_*2581dup NP_039247.1:n.*2580_*2581dup
NM_013992.3:c.*2580_*2581dup NP_054698.1:n.*2580_*2581dup
XM_011511790.1:c.*2503_*2504dup XP_011510092.1:n.*2503_*2504dup
XM_011511791.1:c.*2580_*2581dup XP_011510093.1:n.*2580_*2581dup
XM_011511792.1:c.*2580_*2581dup XP_011510094.1:n.*2580_*2581dup
XM_011511793.1:c.*2503_*2504dup XP_011510095.1:n.*2503_*2504dup
XM_011511794.1:c.*2503_*2504dup XP_011510096.1:n.*2503_*2504dup
XR_923021.1:n.4031_4032dup
NM_003466.4:c.*2503_*2504dup MANE Select NP_003457.1:n.*2503_*2504dup
NM_013952.4:c.*2580_*2581dup NP_039246.1:n.*2580_*2581dup
NM_013953.4:c.*2580_*2581dup NP_039247.1:n.*2580_*2581dup
NM_013992.4:c.*2580_*2581dup NP_054698.1:n.*2580_*2581dup