Canonical Allele Identifier: CA2574757483

Gene: TH

Linked Data

• gnomAD v4: 11-2166902-A-AGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166904_2166906dup , CM000673.2:g.2166904_2166906dup	GRCh38
NC_000011.9:g.2188134_2188136dup , CM000673.1:g.2188134_2188136dup	GRCh37
NC_000011.8:g.2144710_2144712dup	NCBI36
NG_008128.1:g.9901_9903dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.823_825dup MANE Select	ENSP00000325951.4:p.Val275_Ser276insVal
ENST00000324155.8:c.*512_*514dup	ENSP00000325831.3:n.*512_*514dup
ENST00000333684.9:c.696-356_696-354dup	ENSP00000328814.6:n.696-356_696-354dup
ENST00000352909.7:c.823_825dup	ENSP00000325951.3:p.Val275_Ser276insVal
ENST00000381168.7:c.*543_*545dup	ENSP00000370560.3:n.*543_*545dup
ENST00000381175.5:c.904_906dup	ENSP00000370567.1:p.Val302_Ser303insVal
ENST00000381178.5:c.916_918dup	ENSP00000370571.1:p.Val306_Ser307insVal
ENST00000412076.1:c.136-356_136-354dup
ENST00000416223.5:c.136-137_136-135dup
ENST00000469226.1:n.952_954dup
ENST00000479437.5:n.372_374dup
NM_000360.3:c.823_825dup	NP_000351.2:p.Val275_Ser276insVal
NM_199292.2:c.916_918dup	NP_954986.2:p.Val306_Ser307insVal
NM_199293.2:c.904_906dup	NP_954987.2:p.Val302_Ser303insVal
XM_011520335.1:c.835_837dup	XP_011518637.1:p.Val279_Ser280insVal
XM_011520335.2:c.835_837dup	XP_011518637.1:p.Val279_Ser280insVal
NM_000360.4:c.823_825dup MANE Select	NP_000351.2:p.Val275_Ser276insVal
NM_199292.3:c.916_918dup	NP_954986.2:p.Val306_Ser307insVal
NM_199293.3:c.904_906dup	NP_954987.2:p.Val302_Ser303insVal