Canonical Allele Identifier: CA2580063759

Gene: PAX8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113227200del , CM000664.2:g.113227200del	GRCh38
NC_000002.11:g.113984777del , CM000664.1:g.113984777del	GRCh37
NC_000002.10:g.113701248del	NCBI36
NG_012384.1:g.56723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468980.4:c.956del	ENSP00000451240.2:p.Gly319AspfsTer?
ENST00000429538.8:c.1145del MANE Select	ENSP00000395498.3:p.Gly382AspfsTer?
ENST00000681162.1:c.1145del	ENSP00000505425.1:p.Gly382AspfsTer?
ENST00000263334.9:c.1145del	ENSP00000263334.6:p.Gly382AspfsTer?
ENST00000263335.11:c.835del	ENSP00000263335.7:p.Asp279ThrfsTer17
ENST00000348715.9:c.1066del	ENSP00000314750.5:p.Asp356ThrfsTer17
ENST00000397647.7:c.778-7021del	ENSP00000380768.3:n.778-7021del
ENST00000429538.7:c.1145del	ENSP00000395498.3:p.Gly382AspfsTer?
ENST00000465084.1:c.108del
ENST00000468980.3:c.312del
ENST00000485840.1:n.1155del
ENST00000497038.6:c.50del	ENSP00000451618.3:p.Gly17AspfsTer?
NM_003466.3:c.1145del	NP_003457.1:p.Gly382AspfsTer?
NM_013952.3:c.1066del	NP_039246.1:p.Asp356ThrfsTer17
NM_013953.3:c.835del	NP_039247.1:p.Asp279ThrfsTer17
NM_013992.3:c.778-7021del	NP_054698.1:n.778-7021del
XM_011511790.1:c.1316del	XP_011510092.1:p.Gly439AspfsTer?
XM_011511791.1:c.1316del	XP_011510093.1:p.Gly439AspfsTer?
XM_011511792.1:c.1237del	XP_011510094.1:p.Asp413ThrfsTer17
XM_011511793.1:c.1127del	XP_011510095.1:p.Gly376AspfsTer?
XM_011511794.1:c.956del	XP_011510096.1:p.Gly319AspfsTer?
XR_923021.1:n.1264del
NM_003466.4:c.1145del MANE Select	NP_003457.1:p.Gly382AspfsTer?
NM_013952.4:c.1066del	NP_039246.1:p.Asp356ThrfsTer17
NM_013953.4:c.835del	NP_039247.1:p.Asp279ThrfsTer17
NM_013992.4:c.778-7021del	NP_054698.1:n.778-7021del