Canonical Allele Identifier: CA2741142842

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167077_2167087del , CM000673.2:g.2167077_2167087del	GRCh38
NC_000011.9:g.2188307_2188317del , CM000673.1:g.2188307_2188317del	GRCh37
NC_000011.8:g.2144883_2144893del	NCBI36
NG_008128.1:g.9719_9729del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-55_696-45del MANE Select	ENSP00000325951.4:n.696-55_696-45del
ENST00000324155.8:c.*385-55_*385-45del	ENSP00000325831.3:n.*385-55_*385-45del
ENST00000333684.9:c.695+348_695+358del	ENSP00000328814.6:n.695+348_695+358del
ENST00000352909.7:c.696-55_696-45del	ENSP00000325951.3:n.696-55_696-45del
ENST00000381168.7:c.*416-55_*416-45del	ENSP00000370560.3:n.*416-55_*416-45del
ENST00000381175.5:c.777-55_777-45del	ENSP00000370567.1:n.777-55_777-45del
ENST00000381178.5:c.789-55_789-45del	ENSP00000370571.1:n.789-55_789-45del
ENST00000412076.1:c.135+348_135+358del
ENST00000416223.5:c.136-319_136-309del
ENST00000469226.1:n.825-55_825-45del
ENST00000479437.5:n.190_200del
NM_000360.3:c.696-55_696-45del	NP_000351.2:n.696-55_696-45del
NM_199292.2:c.789-55_789-45del	NP_954986.2:n.789-55_789-45del
NM_199293.2:c.777-55_777-45del	NP_954987.2:n.777-55_777-45del
XM_011520335.1:c.708-55_708-45del	XP_011518637.1:n.708-55_708-45del
XM_011520335.2:c.708-55_708-45del	XP_011518637.1:n.708-55_708-45del
NM_000360.4:c.696-55_696-45del MANE Select	NP_000351.2:n.696-55_696-45del
NM_199292.3:c.789-55_789-45del	NP_954986.2:n.789-55_789-45del
NM_199293.3:c.777-55_777-45del	NP_954987.2:n.777-55_777-45del