Canonical Allele Identifier: CA2741142841

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167059_2167073del , CM000673.2:g.2167059_2167073del	GRCh38
NC_000011.9:g.2188289_2188303del , CM000673.1:g.2188289_2188303del	GRCh37
NC_000011.8:g.2144865_2144879del	NCBI36
NG_008128.1:g.9733_9747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-41_696-27del MANE Select	ENSP00000325951.4:n.696-41_696-27del
ENST00000324155.8:c.*385-41_*385-27del	ENSP00000325831.3:n.*385-41_*385-27del
ENST00000333684.9:c.695+362_695+376del	ENSP00000328814.6:n.695+362_695+376del
ENST00000352909.7:c.696-41_696-27del	ENSP00000325951.3:n.696-41_696-27del
ENST00000381168.7:c.*416-41_*416-27del	ENSP00000370560.3:n.*416-41_*416-27del
ENST00000381175.5:c.777-41_777-27del	ENSP00000370567.1:n.777-41_777-27del
ENST00000381178.5:c.789-41_789-27del	ENSP00000370571.1:n.789-41_789-27del
ENST00000412076.1:c.135+362_135+376del
ENST00000416223.5:c.136-305_136-291del
ENST00000469226.1:n.825-41_825-27del
ENST00000479437.5:n.204_218del
NM_000360.3:c.696-41_696-27del	NP_000351.2:n.696-41_696-27del
NM_199292.2:c.789-41_789-27del	NP_954986.2:n.789-41_789-27del
NM_199293.2:c.777-41_777-27del	NP_954987.2:n.777-41_777-27del
XM_011520335.1:c.708-41_708-27del	XP_011518637.1:n.708-41_708-27del
XM_011520335.2:c.708-41_708-27del	XP_011518637.1:n.708-41_708-27del
NM_000360.4:c.696-41_696-27del MANE Select	NP_000351.2:n.696-41_696-27del
NM_199292.3:c.789-41_789-27del	NP_954986.2:n.789-41_789-27del
NM_199293.3:c.777-41_777-27del	NP_954987.2:n.777-41_777-27del