Canonical Allele Identifier: CA2790191071

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167068_2167080del , CM000673.2:g.2167068_2167080del	GRCh38
NC_000011.9:g.2188298_2188310del , CM000673.1:g.2188298_2188310del	GRCh37
NC_000011.8:g.2144874_2144886del	NCBI36
NG_008128.1:g.9731_9743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-43_696-31del MANE Select	ENSP00000325951.4:n.696-43_696-31del
ENST00000324155.8:c.*385-43_*385-31del	ENSP00000325831.3:n.*385-43_*385-31del
ENST00000333684.9:c.695+360_695+372del	ENSP00000328814.6:n.695+360_695+372del
ENST00000352909.7:c.696-43_696-31del	ENSP00000325951.3:n.696-43_696-31del
ENST00000381168.7:c.*416-43_*416-31del	ENSP00000370560.3:n.*416-43_*416-31del
ENST00000381175.5:c.777-43_777-31del	ENSP00000370567.1:n.777-43_777-31del
ENST00000381178.5:c.789-43_789-31del	ENSP00000370571.1:n.789-43_789-31del
ENST00000412076.1:c.135+360_135+372del
ENST00000416223.5:c.136-307_136-295del
ENST00000469226.1:n.825-43_825-31del
ENST00000479437.5:n.202_214del
NM_000360.3:c.696-43_696-31del	NP_000351.2:n.696-43_696-31del
NM_199292.2:c.789-43_789-31del	NP_954986.2:n.789-43_789-31del
NM_199293.2:c.777-43_777-31del	NP_954987.2:n.777-43_777-31del
XM_011520335.1:c.708-43_708-31del	XP_011518637.1:n.708-43_708-31del
XM_011520335.2:c.708-43_708-31del	XP_011518637.1:n.708-43_708-31del
NM_000360.4:c.696-43_696-31del MANE Select	NP_000351.2:n.696-43_696-31del
NM_199292.3:c.789-43_789-31del	NP_954986.2:n.789-43_789-31del
NM_199293.3:c.777-43_777-31del	NP_954987.2:n.777-43_777-31del