Canonical Allele Identifier: CA1948011670

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171492_2171498delinsACCTCAC , CM000673.2:g.2171492_2171498delinsACCTCAC	GRCh38
NC_000011.9:g.2192722_2192728delinsACCTCAC , CM000673.1:g.2192722_2192728delinsACCTCAC	GRCh37
NC_000011.8:g.2149298_2149304delinsACCTCAC	NCBI36
NG_008128.1:g.5308_5314delinsGTGAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.90+199_90+205delinsGTGAGGT MANE Select	ENSP00000325951.4:n.90+199_90+205delinsGTGAGGT
ENST00000324155.8:c.90+199_90+205delinsGTGAGGT	ENSP00000325831.3:n.90+199_90+205delinsGTGAGGT
ENST00000333684.9:c.90+199_90+205delinsGTGAGGT	ENSP00000328814.6:n.90+199_90+205delinsGTGAGGT
ENST00000352909.7:c.90+199_90+205delinsGTGAGGT	ENSP00000325951.3:n.90+199_90+205delinsGTGAGGT
ENST00000381168.7:c.102+187_102+193delinsGTGAGGT	ENSP00000370560.3:n.102+187_102+193delinsGTGAGGT
ENST00000381175.5:c.90+199_90+205delinsGTGAGGT	ENSP00000370567.1:n.90+199_90+205delinsGTGAGGT
ENST00000381178.5:c.102+187_102+193delinsGTGAGGT	ENSP00000370571.1:n.102+187_102+193delinsGTGAGGT
NM_000360.3:c.90+199_90+205delinsGTGAGGT	NP_000351.2:n.90+199_90+205delinsGTGAGGT
NM_199292.2:c.102+187_102+193delinsGTGAGGT	NP_954986.2:n.102+187_102+193delinsGTGAGGT
NM_199293.2:c.90+199_90+205delinsGTGAGGT	NP_954987.2:n.90+199_90+205delinsGTGAGGT
XM_011520335.1:c.102+187_102+193delinsGTGAGGT	XP_011518637.1:n.102+187_102+193delinsGTGAGGT
XM_011520335.2:c.102+187_102+193delinsGTGAGGT	XP_011518637.1:n.102+187_102+193delinsGTGAGGT
NM_000360.4:c.90+199_90+205delinsGTGAGGT MANE Select	NP_000351.2:n.90+199_90+205delinsGTGAGGT
NM_199292.3:c.102+187_102+193delinsGTGAGGT	NP_954986.2:n.102+187_102+193delinsGTGAGGT
NM_199293.3:c.90+199_90+205delinsGTGAGGT	NP_954987.2:n.90+199_90+205delinsGTGAGGT