Canonical Allele Identifier: CA2611963591

Gene: TH

Linked Data

• gnomAD v4: 11-2166727-A-ACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166731_2166733dup , CM000673.2:g.2166731_2166733dup	GRCh38
NC_000011.9:g.2187961_2187963dup , CM000673.1:g.2187961_2187963dup	GRCh37
NC_000011.8:g.2144537_2144539dup	NCBI36
NG_008128.1:g.10076_10078dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.880_882dup MANE Select	ENSP00000325951.4:p.Leu294_Ser295insLeu
ENST00000324155.8:c.*569_*571dup	ENSP00000325831.3:n.*569_*571dup
ENST00000333684.9:c.696-181_696-179dup	ENSP00000328814.6:n.696-181_696-179dup
ENST00000352909.7:c.880_882dup	ENSP00000325951.3:p.Leu294_Ser295insLeu
ENST00000381168.7:c.*600_*602dup	ENSP00000370560.3:n.*600_*602dup
ENST00000381175.5:c.961_963dup	ENSP00000370567.1:p.Leu321_Ser322insLeu
ENST00000381178.5:c.973_975dup	ENSP00000370571.1:p.Leu325_Ser326insLeu
ENST00000412076.1:c.136-181_136-179dup
ENST00000416223.5:c.174_176dup
ENST00000461172.1:n.45_47dup
ENST00000479437.5:n.429_431dup
NM_000360.3:c.880_882dup	NP_000351.2:p.Leu294_Ser295insLeu
NM_199292.2:c.973_975dup	NP_954986.2:p.Leu325_Ser326insLeu
NM_199293.2:c.961_963dup	NP_954987.2:p.Leu321_Ser322insLeu
XM_011520335.1:c.892_894dup	XP_011518637.1:p.Leu298_Ser299insLeu
XM_011520335.2:c.892_894dup	XP_011518637.1:p.Leu298_Ser299insLeu
NM_000360.4:c.880_882dup MANE Select	NP_000351.2:p.Leu294_Ser295insLeu
NM_199292.3:c.973_975dup	NP_954986.2:p.Leu325_Ser326insLeu
NM_199293.3:c.961_963dup	NP_954987.2:p.Leu321_Ser322insLeu