Canonical Allele Identifier: CA2611965285

Gene: TH

Linked Data

• gnomAD v4: 11-2167050-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167051_2167052del , CM000673.2:g.2167051_2167052del	GRCh38
NC_000011.9:g.2188281_2188282del , CM000673.1:g.2188281_2188282del	GRCh37
NC_000011.8:g.2144857_2144858del	NCBI36
NG_008128.1:g.9754_9755del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-20_696-19del MANE Select	ENSP00000325951.4:n.696-20_696-19del
ENST00000324155.8:c.*385-20_*385-19del	ENSP00000325831.3:n.*385-20_*385-19del
ENST00000333684.9:c.695+383_695+384del	ENSP00000328814.6:n.695+383_695+384del
ENST00000352909.7:c.696-20_696-19del	ENSP00000325951.3:n.696-20_696-19del
ENST00000381168.7:c.*416-20_*416-19del	ENSP00000370560.3:n.*416-20_*416-19del
ENST00000381175.5:c.777-20_777-19del	ENSP00000370567.1:n.777-20_777-19del
ENST00000381178.5:c.789-20_789-19del	ENSP00000370571.1:n.789-20_789-19del
ENST00000412076.1:c.135+383_135+384del
ENST00000416223.5:c.136-284_136-283del
ENST00000469226.1:n.825-20_825-19del
ENST00000479437.5:n.225_226del
NM_000360.3:c.696-20_696-19del	NP_000351.2:n.696-20_696-19del
NM_199292.2:c.789-20_789-19del	NP_954986.2:n.789-20_789-19del
NM_199293.2:c.777-20_777-19del	NP_954987.2:n.777-20_777-19del
XM_011520335.1:c.708-20_708-19del	XP_011518637.1:n.708-20_708-19del
XM_011520335.2:c.708-20_708-19del	XP_011518637.1:n.708-20_708-19del
NM_000360.4:c.696-20_696-19del MANE Select	NP_000351.2:n.696-20_696-19del
NM_199292.3:c.789-20_789-19del	NP_954986.2:n.789-20_789-19del
NM_199293.3:c.777-20_777-19del	NP_954987.2:n.777-20_777-19del