Canonical Allele Identifier: CA2586969822

Gene: PAX8 PAX8-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113246790_113246791dup , CM000664.2:g.113246790_113246791dup	GRCh38
NC_000002.11:g.114004367_114004368dup , CM000664.1:g.114004367_114004368dup	GRCh37
NC_000002.10:g.113720837_113720838dup	NCBI36
NG_012384.1:g.37133_37134dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000468980.4:c.156_157dup (PAX8)	ENSP00000451240.2:p.Val53AlafsTer24
ENST00000429538.8:c.156_157dup (PAX8) MANE Select	ENSP00000395498.3:p.Val53AlafsTer24
ENST00000681162.1:c.156_157dup (PAX8)	ENSP00000505425.1:p.Val53AlafsTer24
ENST00000263334.9:c.156_157dup (PAX8)	ENSP00000263334.6:p.Val53AlafsTer24
ENST00000263335.11:c.156_157dup (PAX8)	ENSP00000263335.7:p.Val53AlafsTer24
ENST00000348715.9:c.156_157dup (PAX8)	ENSP00000314750.5:p.Val53AlafsTer24
ENST00000397647.7:c.156_157dup (PAX8)	ENSP00000380768.3:p.Val53AlafsTer24
ENST00000429538.7:c.156_157dup (PAX8)	ENSP00000395498.3:p.Val53AlafsTer24
ENST00000467778.5:n.320_321dup (PAX8)
ENST00000554830.2:c.-40-4011_-40-4010dup (PAX8)	ENSP00000451213.2:n.-40-4011_-40-4010dup
NM_003466.3:c.156_157dup (PAX8)	NP_003457.1:p.Val53AlafsTer24
NM_013952.3:c.156_157dup (PAX8)	NP_039246.1:p.Val53AlafsTer24
NM_013953.3:c.156_157dup (PAX8)	NP_039247.1:p.Val53AlafsTer24
NM_013992.3:c.156_157dup (PAX8)	NP_054698.1:p.Val53AlafsTer24
NR_015377.2:n.355-3977_355-3976dup (PAX8-AS1)
XM_011511790.1:c.324_325dup (PAX8)	XP_011510092.1:p.Val109AlafsTer25
XM_011511791.1:c.324_325dup (PAX8)	XP_011510093.1:p.Val109AlafsTer25
XM_011511792.1:c.324_325dup (PAX8)	XP_011510094.1:p.Val109AlafsTer25
XM_011511793.1:c.324_325dup (PAX8)	XP_011510095.1:p.Val109AlafsTer25
XM_011511794.1:c.156_157dup (PAX8)	XP_011510096.1:p.Val53AlafsTer24
XR_923021.1:n.351_352dup (PAX8)
NM_003466.4:c.156_157dup (PAX8) MANE Select	NP_003457.1:p.Val53AlafsTer24
NM_013952.4:c.156_157dup (PAX8)	NP_039246.1:p.Val53AlafsTer24
NM_013953.4:c.156_157dup (PAX8)	NP_039247.1:p.Val53AlafsTer24
NM_013992.4:c.156_157dup (PAX8)	NP_054698.1:p.Val53AlafsTer24