Canonical Allele Identifier: CA1948005090
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2166507_2166550delinsGGCCAGCATGGGCACGTGCCCCAGCAGCTCGTGGCAGCAGTCCC , CM000673.2:g.2166507_2166550delinsGGCCAGCATGGGCACGTGCCCCAGCAGCTCGTGGCAGCAGTCCC GRCh38
NC_000011.9:g.2187737_2187780delinsGGCCAGCATGGGCACGTGCCCCAGCAGCTCGTGGCAGCAGTCCC , CM000673.1:g.2187737_2187780delinsGGCCAGCATGGGCACGTGCCCCAGCAGCTCGTGGCAGCAGTCCC GRCh37
NC_000011.8:g.2144313_2144356delinsGGCCAGCATGGGCACGTGCCCCAGCAGCTCGTGGCAGCAGTCCC NCBI36
NG_008128.1:g.10256_10299delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.978-1_1020delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC
ENST00000324155.8:c.*667-1_*709delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC
ENST00000333684.9:c.696-1_738delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC
ENST00000352909.7:c.978-1_1020delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC
ENST00000381168.7:c.*698-1_*740delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC
ENST00000381175.5:c.1059-1_1101delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC
ENST00000381178.5:c.1071-1_1113delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC
ENST00000412076.1:c.136-1_178delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC
ENST00000416223.5:c.272-1_314delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC
ENST00000461172.1:n.143-1_185delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC
ENST00000479437.5:n.527-1_569delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC
NM_000360.3:c.978-1_1020delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC
NM_199292.2:c.1071-1_1113delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC
NM_199293.2:c.1059-1_1101delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC
XM_011520335.1:c.990-1_1032delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC
XM_011520335.2:c.990-1_1032delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC
NM_000360.4:c.978-1_1020delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC
NM_199292.3:c.1071-1_1113delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC
NM_199293.3:c.1059-1_1101delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC