Canonical Allele Identifier: CA1948005580

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166795_2166811delinsCGAGCCGGGACGGGCTG , CM000673.2:g.2166795_2166811delinsCGAGCCGGGACGGGCTG	GRCh38
NC_000011.9:g.2188025_2188041delinsCGAGCCGGGACGGGCTG , CM000673.1:g.2188025_2188041delinsCGAGCCGGGACGGGCTG	GRCh37
NC_000011.8:g.2144601_2144617delinsCGAGCCGGGACGGGCTG	NCBI36
NG_008128.1:g.9995_10011delinsCAGCCCGTCCCGGCTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.842-43_842-27delinsCAGCCCGTCCCGGCTCG MANE Select	ENSP00000325951.4:n.842-43_842-27delinsCAGCCCGTCCCGGCTCG
ENST00000324155.8:c.*531-43_*531-27delinsCAGCCCGTCCCGGCTCG	ENSP00000325831.3:n.*531-43_*531-27delinsCAGCCCGTCCCGGCTCG
ENST00000333684.9:c.696-262_696-246delinsCAGCCCGTCCCGGCTCG	ENSP00000328814.6:n.696-262_696-246delinsCAGCCCGTCCCGGCTCG
ENST00000352909.7:c.842-43_842-27delinsCAGCCCGTCCCGGCTCG	ENSP00000325951.3:n.842-43_842-27delinsCAGCCCGTCCCGGCTCG
ENST00000381168.7:c.*562-43_*562-27delinsCAGCCCGTCCCGGCTCG	ENSP00000370560.3:n.*562-43_*562-27delinsCAGCCCGTCCCGGCTCG
ENST00000381175.5:c.923-43_923-27delinsCAGCCCGTCCCGGCTCG	ENSP00000370567.1:n.923-43_923-27delinsCAGCCCGTCCCGGCTCG
ENST00000381178.5:c.935-43_935-27delinsCAGCCCGTCCCGGCTCG	ENSP00000370571.1:n.935-43_935-27delinsCAGCCCGTCCCGGCTCG
ENST00000412076.1:c.136-262_136-246delinsCAGCCCGTCCCGGCTCG
ENST00000416223.5:c.136-43_136-27delinsCAGCCCGTCCCGGCTCG
ENST00000479437.5:n.391-43_391-27delinsCAGCCCGTCCCGGCTCG
NM_000360.3:c.842-43_842-27delinsCAGCCCGTCCCGGCTCG	NP_000351.2:n.842-43_842-27delinsCAGCCCGTCCCGGCTCG
NM_199292.2:c.935-43_935-27delinsCAGCCCGTCCCGGCTCG	NP_954986.2:n.935-43_935-27delinsCAGCCCGTCCCGGCTCG
NM_199293.2:c.923-43_923-27delinsCAGCCCGTCCCGGCTCG	NP_954987.2:n.923-43_923-27delinsCAGCCCGTCCCGGCTCG
XM_011520335.1:c.854-43_854-27delinsCAGCCCGTCCCGGCTCG	XP_011518637.1:n.854-43_854-27delinsCAGCCCGTCCCGGCTCG
XM_011520335.2:c.854-43_854-27delinsCAGCCCGTCCCGGCTCG	XP_011518637.1:n.854-43_854-27delinsCAGCCCGTCCCGGCTCG
NM_000360.4:c.842-43_842-27delinsCAGCCCGTCCCGGCTCG MANE Select	NP_000351.2:n.842-43_842-27delinsCAGCCCGTCCCGGCTCG
NM_199292.3:c.935-43_935-27delinsCAGCCCGTCCCGGCTCG	NP_954986.2:n.935-43_935-27delinsCAGCCCGTCCCGGCTCG
NM_199293.3:c.923-43_923-27delinsCAGCCCGTCCCGGCTCG	NP_954987.2:n.923-43_923-27delinsCAGCCCGTCCCGGCTCG