Canonical Allele Identifier: CA2660786263

Gene: PAX8 PAX8-AS1

Linked Data

• gnomAD v4: 2-113244550-ACCACCTTGGGGGTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113244561_113244575del , CM000664.2:g.113244561_113244575del	GRCh38
NC_000002.11:g.114002138_114002152del , CM000664.1:g.114002138_114002152del	GRCh37
NC_000002.10:g.113718608_113718622del	NCBI36
NG_012384.1:g.39357_39371del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468980.4:c.251_265del (PAX8)	ENSP00000451240.2:p.Ala84_Val88del
ENST00000429538.8:c.251_265del (PAX8) MANE Select	ENSP00000395498.3:p.Ala84_Val88del
ENST00000681162.1:c.251_265del (PAX8)	ENSP00000505425.1:p.Ala84_Val88del
ENST00000263334.9:c.251_265del (PAX8)	ENSP00000263334.6:p.Ala84_Val88del
ENST00000263335.11:c.251_265del (PAX8)	ENSP00000263335.7:p.Ala84_Val88del
ENST00000348715.9:c.251_265del (PAX8)	ENSP00000314750.5:p.Ala84_Val88del
ENST00000397647.7:c.251_265del (PAX8)	ENSP00000380768.3:p.Ala84_Val88del
ENST00000429538.7:c.251_265del (PAX8)	ENSP00000395498.3:p.Ala84_Val88del
ENST00000467778.5:n.415_429del (PAX8)
ENST00000554830.2:c.-40-1787_-40-1773del (PAX8)	ENSP00000451213.2:n.-40-1787_-40-1773del
NM_003466.3:c.251_265del (PAX8)	NP_003457.1:p.Ala84_Val88del
NM_013952.3:c.251_265del (PAX8)	NP_039246.1:p.Ala84_Val88del
NM_013953.3:c.251_265del (PAX8)	NP_039247.1:p.Ala84_Val88del
NM_013992.3:c.251_265del (PAX8)	NP_054698.1:p.Ala84_Val88del
NR_015377.2:n.355-6206_355-6192del (PAX8-AS1)
XM_011511790.1:c.422_436del (PAX8)	XP_011510092.1:p.Ala141_Val145del
XM_011511791.1:c.422_436del (PAX8)	XP_011510093.1:p.Ala141_Val145del
XM_011511792.1:c.422_436del (PAX8)	XP_011510094.1:p.Ala141_Val145del
XM_011511793.1:c.422_436del (PAX8)	XP_011510095.1:p.Ala141_Val145del
XM_011511794.1:c.251_265del (PAX8)	XP_011510096.1:p.Ala84_Val88del
XR_923021.1:n.449_463del (PAX8)
NM_003466.4:c.251_265del (PAX8) MANE Select	NP_003457.1:p.Ala84_Val88del
NM_013952.4:c.251_265del (PAX8)	NP_039246.1:p.Ala84_Val88del
NM_013953.4:c.251_265del (PAX8)	NP_039247.1:p.Ala84_Val88del
NM_013992.4:c.251_265del (PAX8)	NP_054698.1:p.Ala84_Val88del