Canonical Allele Identifier: CA1948005175

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166554_2166555delinsGC , CM000673.2:g.2166554_2166555delinsGC	GRCh38
NC_000011.9:g.2187784_2187785delinsGC , CM000673.1:g.2187784_2187785delinsGC	GRCh37
NC_000011.8:g.2144360_2144361delinsGC	NCBI36
NG_008128.1:g.10251_10252delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.978-6_978-5delinsGC MANE Select	ENSP00000325951.4:n.978-6_978-5delinsGC
ENST00000324155.8:c.*667-6_*667-5delinsGC	ENSP00000325831.3:n.*667-6_*667-5delinsGC
ENST00000333684.9:c.696-6_696-5delinsGC	ENSP00000328814.6:n.696-6_696-5delinsGC
ENST00000352909.7:c.978-6_978-5delinsGC	ENSP00000325951.3:n.978-6_978-5delinsGC
ENST00000381168.7:c.*698-6_*698-5delinsGC	ENSP00000370560.3:n.*698-6_*698-5delinsGC
ENST00000381175.5:c.1059-6_1059-5delinsGC	ENSP00000370567.1:n.1059-6_1059-5delinsGC
ENST00000381178.5:c.1071-6_1071-5delinsGC	ENSP00000370571.1:n.1071-6_1071-5delinsGC
ENST00000412076.1:c.136-6_136-5delinsGC
ENST00000416223.5:c.272-6_272-5delinsGC
ENST00000461172.1:n.143-6_143-5delinsGC
ENST00000479437.5:n.527-6_527-5delinsGC
NM_000360.3:c.978-6_978-5delinsGC	NP_000351.2:n.978-6_978-5delinsGC
NM_199292.2:c.1071-6_1071-5delinsGC	NP_954986.2:n.1071-6_1071-5delinsGC
NM_199293.2:c.1059-6_1059-5delinsGC	NP_954987.2:n.1059-6_1059-5delinsGC
XM_011520335.1:c.990-6_990-5delinsGC	XP_011518637.1:n.990-6_990-5delinsGC
XM_011520335.2:c.990-6_990-5delinsGC	XP_011518637.1:n.990-6_990-5delinsGC
NM_000360.4:c.978-6_978-5delinsGC MANE Select	NP_000351.2:n.978-6_978-5delinsGC
NM_199292.3:c.1071-6_1071-5delinsGC	NP_954986.2:n.1071-6_1071-5delinsGC
NM_199293.3:c.1059-6_1059-5delinsGC	NP_954987.2:n.1059-6_1059-5delinsGC