Canonical Allele Identifier: CA2611963688

Gene: TH

Linked Data

• gnomAD v4: 11-2166770-TGCAAGGGGCCACGCGGGTCACTGCCGAGCCGGGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166772_2166806del , CM000673.2:g.2166772_2166806del	GRCh38
NC_000011.9:g.2188002_2188036del , CM000673.1:g.2188002_2188036del	GRCh37
NC_000011.8:g.2144578_2144612del	NCBI36
NG_008128.1:g.10001_10035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.842-37_842-3del MANE Select	ENSP00000325951.4:n.842-37_842-3del
ENST00000324155.8:c.*531-37_*531-3del	ENSP00000325831.3:n.*531-37_*531-3del
ENST00000333684.9:c.696-256_696-222del	ENSP00000328814.6:n.696-256_696-222del
ENST00000352909.7:c.842-37_842-3del	ENSP00000325951.3:n.842-37_842-3del
ENST00000381168.7:c.*562-37_*562-3del	ENSP00000370560.3:n.*562-37_*562-3del
ENST00000381175.5:c.923-37_923-3del	ENSP00000370567.1:n.923-37_923-3del
ENST00000381178.5:c.935-37_935-3del	ENSP00000370571.1:n.935-37_935-3del
ENST00000412076.1:c.136-256_136-222del
ENST00000416223.5:c.136-37_136-3del
ENST00000479437.5:n.391-37_391-3del
NM_000360.3:c.842-37_842-3del	NP_000351.2:n.842-37_842-3del
NM_199292.2:c.935-37_935-3del	NP_954986.2:n.935-37_935-3del
NM_199293.2:c.923-37_923-3del	NP_954987.2:n.923-37_923-3del
XM_011520335.1:c.854-37_854-3del	XP_011518637.1:n.854-37_854-3del
XM_011520335.2:c.854-37_854-3del	XP_011518637.1:n.854-37_854-3del
NM_000360.4:c.842-37_842-3del MANE Select	NP_000351.2:n.842-37_842-3del
NM_199292.3:c.935-37_935-3del	NP_954986.2:n.935-37_935-3del
NM_199293.3:c.923-37_923-3del	NP_954987.2:n.923-37_923-3del