Canonical Allele Identifier: CA2751756821
Gene: PAX8 HGNC NCBI
PAX8-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.113244094_113244095del , CM000664.2:g.113244094_113244095del GRCh38
NC_000002.11:g.114001671_114001672del , CM000664.1:g.114001671_114001672del GRCh37
NC_000002.10:g.113718141_113718142del NCBI36
NG_012384.1:g.39829_39830del

Transcript Alleles

HGVS Amino-acid Change
ENST00000468980.4:c.389+334_389+335del (PAX8) ENSP00000451240.2:n.389+334_389+335del
ENST00000429538.8:c.389+334_389+335del (PAX8) MANE Select ENSP00000395498.3:n.389+334_389+335del
ENST00000681162.1:c.389+334_389+335del (PAX8) ENSP00000505425.1:n.389+334_389+335del
ENST00000263334.9:c.389+334_389+335del (PAX8) ENSP00000263334.6:n.389+334_389+335del
ENST00000263335.11:c.389+334_389+335del (PAX8) ENSP00000263335.7:n.389+334_389+335del
ENST00000348715.9:c.389+334_389+335del (PAX8) ENSP00000314750.5:n.389+334_389+335del
ENST00000397647.7:c.389+334_389+335del (PAX8) ENSP00000380768.3:n.389+334_389+335del
ENST00000429538.7:c.389+334_389+335del (PAX8) ENSP00000395498.3:n.389+334_389+335del
ENST00000467778.5:n.553+334_553+335del (PAX8)
ENST00000554830.2:c.-40-1315_-40-1314del (PAX8) ENSP00000451213.2:n.-40-1315_-40-1314del
NM_003466.3:c.389+334_389+335del (PAX8) NP_003457.1:n.389+334_389+335del
NM_013952.3:c.389+334_389+335del (PAX8) NP_039246.1:n.389+334_389+335del
NM_013953.3:c.389+334_389+335del (PAX8) NP_039247.1:n.389+334_389+335del
NM_013992.3:c.389+334_389+335del (PAX8) NP_054698.1:n.389+334_389+335del
NR_015377.2:n.355-6673_355-6672del (PAX8-AS1)
XM_011511790.1:c.560+334_560+335del (PAX8) XP_011510092.1:n.560+334_560+335del
XM_011511791.1:c.560+334_560+335del (PAX8) XP_011510093.1:n.560+334_560+335del
XM_011511792.1:c.560+334_560+335del (PAX8) XP_011510094.1:n.560+334_560+335del
XM_011511793.1:c.560+334_560+335del (PAX8) XP_011510095.1:n.560+334_560+335del
XM_011511794.1:c.389+334_389+335del (PAX8) XP_011510096.1:n.389+334_389+335del
XR_923021.1:n.587+334_587+335del (PAX8)
NM_003466.4:c.389+334_389+335del (PAX8) MANE Select NP_003457.1:n.389+334_389+335del
NM_013952.4:c.389+334_389+335del (PAX8) NP_039246.1:n.389+334_389+335del
NM_013953.4:c.389+334_389+335del (PAX8) NP_039247.1:n.389+334_389+335del
NM_013992.4:c.389+334_389+335del (PAX8) NP_054698.1:n.389+334_389+335del