Canonical Allele Identifier: CA1948007043

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167789_2167797delinsGTCCTTCCC , CM000673.2:g.2167789_2167797delinsGTCCTTCCC	GRCh38
NC_000011.9:g.2189019_2189027delinsGTCCTTCCC , CM000673.1:g.2189019_2189027delinsGTCCTTCCC	GRCh37
NC_000011.8:g.2145595_2145603delinsGTCCTTCCC	NCBI36
NG_008128.1:g.9009_9017delinsGGGAAGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.644+69_644+77delinsGGGAAGGAC MANE Select	ENSP00000325951.4:n.644+69_644+77delinsGGGAAGGAC
ENST00000324155.8:c.*333+69_*333+77delinsGGGAAGGAC	ENSP00000325831.3:n.*333+69_*333+77delinsGGGAAGGAC
ENST00000333684.9:c.644+69_644+77delinsGGGAAGGAC	ENSP00000328814.6:n.644+69_644+77delinsGGGAAGGAC
ENST00000352909.7:c.644+69_644+77delinsGGGAAGGAC	ENSP00000325951.3:n.644+69_644+77delinsGGGAAGGAC
ENST00000381168.7:c.*333+69_*333+77delinsGGGAAGGAC	ENSP00000370560.3:n.*333+69_*333+77delinsGGGAAGGAC
ENST00000381175.5:c.725+69_725+77delinsGGGAAGGAC	ENSP00000370567.1:n.725+69_725+77delinsGGGAAGGAC
ENST00000381178.5:c.737+69_737+77delinsGGGAAGGAC	ENSP00000370571.1:n.737+69_737+77delinsGGGAAGGAC
ENST00000412076.1:c.84+69_84+77delinsGGGAAGGAC
ENST00000416223.5:c.84+69_84+77delinsGGGAAGGAC
ENST00000469226.1:n.462_470delinsGGGAAGGAC
NM_000360.3:c.644+69_644+77delinsGGGAAGGAC	NP_000351.2:n.644+69_644+77delinsGGGAAGGAC
NM_199292.2:c.737+69_737+77delinsGGGAAGGAC	NP_954986.2:n.737+69_737+77delinsGGGAAGGAC
NM_199293.2:c.725+69_725+77delinsGGGAAGGAC	NP_954987.2:n.725+69_725+77delinsGGGAAGGAC
XM_011520335.1:c.656+69_656+77delinsGGGAAGGAC	XP_011518637.1:n.656+69_656+77delinsGGGAAGGAC
XM_011520335.2:c.656+69_656+77delinsGGGAAGGAC	XP_011518637.1:n.656+69_656+77delinsGGGAAGGAC
NM_000360.4:c.644+69_644+77delinsGGGAAGGAC MANE Select	NP_000351.2:n.644+69_644+77delinsGGGAAGGAC
NM_199292.3:c.737+69_737+77delinsGGGAAGGAC	NP_954986.2:n.737+69_737+77delinsGGGAAGGAC
NM_199293.3:c.725+69_725+77delinsGGGAAGGAC	NP_954987.2:n.725+69_725+77delinsGGGAAGGAC