Canonical Allele Identifier: CA1948004904

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166367_2166368delinsCG , CM000673.2:g.2166367_2166368delinsCG	GRCh38
NC_000011.9:g.2187597_2187598delinsCG , CM000673.1:g.2187597_2187598delinsCG	GRCh37
NC_000011.8:g.2144173_2144174delinsCG	NCBI36
NG_008128.1:g.10438_10439delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1047+112_1047+113delinsCG MANE Select	ENSP00000325951.4:n.1047+112_1047+113delinsCG
ENST00000324155.8:c.*736+112_*736+113delinsCG	ENSP00000325831.3:n.*736+112_*736+113delinsCG
ENST00000333684.9:c.765+112_765+113delinsCG	ENSP00000328814.6:n.765+112_765+113delinsCG
ENST00000352909.7:c.1047+112_1047+113delinsCG	ENSP00000325951.3:n.1047+112_1047+113delinsCG
ENST00000381168.7:c.*767+112_*767+113delinsCG	ENSP00000370560.3:n.*767+112_*767+113delinsCG
ENST00000381175.5:c.1128+112_1128+113delinsCG	ENSP00000370567.1:n.1128+112_1128+113delinsCG
ENST00000381178.5:c.1140+112_1140+113delinsCG	ENSP00000370571.1:n.1140+112_1140+113delinsCG
ENST00000412076.1:c.205+112_205+113delinsCG
ENST00000416223.5:c.341+112_341+113delinsCG
ENST00000461172.1:n.324_325delinsCG
ENST00000479437.5:n.596+112_596+113delinsCG
NM_000360.3:c.1047+112_1047+113delinsCG	NP_000351.2:n.1047+112_1047+113delinsCG
NM_199292.2:c.1140+112_1140+113delinsCG	NP_954986.2:n.1140+112_1140+113delinsCG
NM_199293.2:c.1128+112_1128+113delinsCG	NP_954987.2:n.1128+112_1128+113delinsCG
XM_011520335.1:c.1059+112_1059+113delinsCG	XP_011518637.1:n.1059+112_1059+113delinsCG
XM_011520335.2:c.1059+112_1059+113delinsCG	XP_011518637.1:n.1059+112_1059+113delinsCG
NM_000360.4:c.1047+112_1047+113delinsCG MANE Select	NP_000351.2:n.1047+112_1047+113delinsCG
NM_199292.3:c.1140+112_1140+113delinsCG	NP_954986.2:n.1140+112_1140+113delinsCG
NM_199293.3:c.1128+112_1128+113delinsCG	NP_954987.2:n.1128+112_1128+113delinsCG