Canonical Allele Identifier: CA1948007120

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167850_2167866delinsCGCAGGGGCCCCTCACT , CM000673.2:g.2167850_2167866delinsCGCAGGGGCCCCTCACT	GRCh38
NC_000011.9:g.2189080_2189096delinsCGCAGGGGCCCCTCACT , CM000673.1:g.2189080_2189096delinsCGCAGGGGCCCCTCACT	GRCh37
NC_000011.8:g.2145656_2145672delinsCGCAGGGGCCCCTCACT	NCBI36
NG_008128.1:g.8940_8956delinsAGTGAGGGGCCCCTGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.644_644+16delinsAGTGAGGGGCCCCTGCG
ENST00000324155.8:c.*333_*333+16delinsAGTGAGGGGCCCCTGCG
ENST00000333684.9:c.644_644+16delinsAGTGAGGGGCCCCTGCG
ENST00000352909.7:c.644_644+16delinsAGTGAGGGGCCCCTGCG
ENST00000381168.7:c.*333_*333+16delinsAGTGAGGGGCCCCTGCG
ENST00000381175.5:c.725_725+16delinsAGTGAGGGGCCCCTGCG
ENST00000381178.5:c.737_737+16delinsAGTGAGGGGCCCCTGCG
ENST00000412076.1:c.84_84+16delinsAGTGAGGGGCCCCTGCG
ENST00000416223.5:c.84_84+16delinsAGTGAGGGGCCCCTGCG
ENST00000469226.1:n.393_409delinsAGTGAGGGGCCCCTGCG
NM_000360.3:c.644_644+16delinsAGTGAGGGGCCCCTGCG
NM_199292.2:c.737_737+16delinsAGTGAGGGGCCCCTGCG
NM_199293.2:c.725_725+16delinsAGTGAGGGGCCCCTGCG
XM_011520335.1:c.656_656+16delinsAGTGAGGGGCCCCTGCG
XM_011520335.2:c.656_656+16delinsAGTGAGGGGCCCCTGCG
NM_000360.4:c.644_644+16delinsAGTGAGGGGCCCCTGCG
NM_199292.3:c.737_737+16delinsAGTGAGGGGCCCCTGCG
NM_199293.3:c.725_725+16delinsAGTGAGGGGCCCCTGCG