Canonical Allele Identifier: CA2611964108
Gene: TH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2166881del , CM000673.2:g.2166881del GRCh38
NC_000011.9:g.2188111del , CM000673.1:g.2188111del GRCh37
NC_000011.8:g.2144687del NCBI36
NG_008128.1:g.9927del

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.841+8del MANE Select ENSP00000325951.4:n.841+8del
ENST00000324155.8:c.*530+8del ENSP00000325831.3:n.*530+8del
ENST00000333684.9:c.696-330del ENSP00000328814.6:n.696-330del
ENST00000352909.7:c.841+8del ENSP00000325951.3:n.841+8del
ENST00000381168.7:c.*561+8del ENSP00000370560.3:n.*561+8del
ENST00000381175.5:c.922+8del ENSP00000370567.1:n.922+8del
ENST00000381178.5:c.934+8del ENSP00000370571.1:n.934+8del
ENST00000412076.1:c.136-330del
ENST00000416223.5:c.136-111del
ENST00000479437.5:n.390+8del
NM_000360.3:c.841+8del NP_000351.2:n.841+8del
NM_199292.2:c.934+8del NP_954986.2:n.934+8del
NM_199293.2:c.922+8del NP_954987.2:n.922+8del
XM_011520335.1:c.853+8del XP_011518637.1:n.853+8del
XM_011520335.2:c.853+8del XP_011518637.1:n.853+8del
NM_000360.4:c.841+8del MANE Select NP_000351.2:n.841+8del
NM_199292.3:c.934+8del NP_954986.2:n.934+8del
NM_199293.3:c.922+8del NP_954987.2:n.922+8del