Canonical Allele Identifier: CA2611961405

Gene: TH

Linked Data

• gnomAD v4: 11-2166470-C-CGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166474_2166476dup , CM000673.2:g.2166474_2166476dup	GRCh38
NC_000011.9:g.2187704_2187706dup , CM000673.1:g.2187704_2187706dup	GRCh37
NC_000011.8:g.2144280_2144282dup	NCBI36
NG_008128.1:g.10333_10335dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1047+7_1047+9dup MANE Select	ENSP00000325951.4:n.1047+7_1047+9dup
ENST00000324155.8:c.*736+7_*736+9dup	ENSP00000325831.3:n.*736+7_*736+9dup
ENST00000333684.9:c.765+7_765+9dup	ENSP00000328814.6:n.765+7_765+9dup
ENST00000352909.7:c.1047+7_1047+9dup	ENSP00000325951.3:n.1047+7_1047+9dup
ENST00000381168.7:c.*767+7_*767+9dup	ENSP00000370560.3:n.*767+7_*767+9dup
ENST00000381175.5:c.1128+7_1128+9dup	ENSP00000370567.1:n.1128+7_1128+9dup
ENST00000381178.5:c.1140+7_1140+9dup	ENSP00000370571.1:n.1140+7_1140+9dup
ENST00000412076.1:c.205+7_205+9dup
ENST00000416223.5:c.341+7_341+9dup
ENST00000461172.1:n.219_221dup
ENST00000479437.5:n.596+7_596+9dup
NM_000360.3:c.1047+7_1047+9dup	NP_000351.2:n.1047+7_1047+9dup
NM_199292.2:c.1140+7_1140+9dup	NP_954986.2:n.1140+7_1140+9dup
NM_199293.2:c.1128+7_1128+9dup	NP_954987.2:n.1128+7_1128+9dup
XM_011520335.1:c.1059+7_1059+9dup	XP_011518637.1:n.1059+7_1059+9dup
XM_011520335.2:c.1059+7_1059+9dup	XP_011518637.1:n.1059+7_1059+9dup
NM_000360.4:c.1047+7_1047+9dup MANE Select	NP_000351.2:n.1047+7_1047+9dup
NM_199292.3:c.1140+7_1140+9dup	NP_954986.2:n.1140+7_1140+9dup
NM_199293.3:c.1128+7_1128+9dup	NP_954987.2:n.1128+7_1128+9dup