Canonical Allele Identifier: CA2611961953

Gene: TH

Linked Data

• gnomAD v4: 11-2166548-CCCTGCGCGTAGGAGGGAGAAGGGGGCTGAGGGGCCGCCCGTCGCACCCCCCACCCTCGGGCTGGCGGCCAGGGCGCGCACTCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166550_2166632del , CM000673.2:g.2166550_2166632del	GRCh38
NC_000011.9:g.2187780_2187862del , CM000673.1:g.2187780_2187862del	GRCh37
NC_000011.8:g.2144356_2144438del	NCBI36
NG_008128.1:g.10175_10257del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.977+2_978del
ENST00000324155.8:c.*666+2_*667del
ENST00000333684.9:c.696-82_696del
ENST00000352909.7:c.977+2_978del
ENST00000381168.7:c.*697+2_*698del
ENST00000381175.5:c.1058+2_1059del
ENST00000381178.5:c.1070+2_1071del
ENST00000412076.1:c.136-82_136del
ENST00000416223.5:c.271+2_272del
ENST00000461172.1:n.142+2_143del
ENST00000479437.5:n.526+2_527del
NM_000360.3:c.977+2_978del
NM_199292.2:c.1070+2_1071del
NM_199293.2:c.1058+2_1059del
XM_011520335.1:c.989+2_990del
XM_011520335.2:c.989+2_990del
NM_000360.4:c.977+2_978del
NM_199292.3:c.1070+2_1071del
NM_199293.3:c.1058+2_1059del