Canonical Allele Identifier: CA2660786407

Gene: PAX8 PAX8-AS1

Linked Data

• gnomAD v4: 2-113246634-AAGCTGGACATTGGGAGCAAATCCCCGTTCCCTGGGAGGGGAATTCTCTAGCTGCCCTGAGATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113246642_113246704del , CM000664.2:g.113246642_113246704del	GRCh38
NC_000002.11:g.114004219_114004281del , CM000664.1:g.114004219_114004281del	GRCh37
NC_000002.10:g.113720689_113720751del	NCBI36
NG_012384.1:g.37225_37287del

Transcript Alleles

HGVS	Amino-acid change
ENST00000468980.4:c.191+57_191+119del (PAX8)	ENSP00000451240.2:n.191+57_191+119del
ENST00000429538.8:c.191+57_191+119del (PAX8) MANE Select	ENSP00000395498.3:n.191+57_191+119del
ENST00000681162.1:c.191+57_191+119del (PAX8)	ENSP00000505425.1:n.191+57_191+119del
ENST00000263334.9:c.191+57_191+119del (PAX8)	ENSP00000263334.6:n.191+57_191+119del
ENST00000263335.11:c.191+57_191+119del (PAX8)	ENSP00000263335.7:n.191+57_191+119del
ENST00000348715.9:c.191+57_191+119del (PAX8)	ENSP00000314750.5:n.191+57_191+119del
ENST00000397647.7:c.191+57_191+119del (PAX8)	ENSP00000380768.3:n.191+57_191+119del
ENST00000429538.7:c.191+57_191+119del (PAX8)	ENSP00000395498.3:n.191+57_191+119del
ENST00000467778.5:n.355+57_355+119del (PAX8)
ENST00000554830.2:c.-40-3919_-40-3857del (PAX8)	ENSP00000451213.2:n.-40-3919_-40-3857del
NM_003466.3:c.191+57_191+119del (PAX8)	NP_003457.1:n.191+57_191+119del
NM_013952.3:c.191+57_191+119del (PAX8)	NP_039246.1:n.191+57_191+119del
NM_013953.3:c.191+57_191+119del (PAX8)	NP_039247.1:n.191+57_191+119del
NM_013992.3:c.191+57_191+119del (PAX8)	NP_054698.1:n.191+57_191+119del
NR_015377.2:n.355-4125_355-4063del (PAX8-AS1)
XM_011511790.1:c.359+57_359+119del (PAX8)	XP_011510092.1:n.359+57_359+119del
XM_011511791.1:c.359+57_359+119del (PAX8)	XP_011510093.1:n.359+57_359+119del
XM_011511792.1:c.359+57_359+119del (PAX8)	XP_011510094.1:n.359+57_359+119del
XM_011511793.1:c.359+57_359+119del (PAX8)	XP_011510095.1:n.359+57_359+119del
XM_011511794.1:c.191+57_191+119del (PAX8)	XP_011510096.1:n.191+57_191+119del
XR_923021.1:n.386+57_386+119del (PAX8)
NM_003466.4:c.191+57_191+119del (PAX8) MANE Select	NP_003457.1:n.191+57_191+119del
NM_013952.4:c.191+57_191+119del (PAX8)	NP_039246.1:n.191+57_191+119del
NM_013953.4:c.191+57_191+119del (PAX8)	NP_039247.1:n.191+57_191+119del
NM_013992.4:c.191+57_191+119del (PAX8)	NP_054698.1:n.191+57_191+119del