Canonical Allele Identifier: CA1948006186

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167080_2167083delinsCGAA , CM000673.2:g.2167080_2167083delinsCGAA	GRCh38
NC_000011.9:g.2188310_2188313delinsCGAA , CM000673.1:g.2188310_2188313delinsCGAA	GRCh37
NC_000011.8:g.2144886_2144889delinsCGAA	NCBI36
NG_008128.1:g.9723_9726delinsTTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-51_696-48delinsTTCG MANE Select	ENSP00000325951.4:n.696-51_696-48delinsTTCG
ENST00000324155.8:c.*385-51_*385-48delinsTTCG	ENSP00000325831.3:n.*385-51_*385-48delinsTTCG
ENST00000333684.9:c.695+352_695+355delinsTTCG	ENSP00000328814.6:n.695+352_695+355delinsTTCG
ENST00000352909.7:c.696-51_696-48delinsTTCG	ENSP00000325951.3:n.696-51_696-48delinsTTCG
ENST00000381168.7:c.*416-51_*416-48delinsTTCG	ENSP00000370560.3:n.*416-51_*416-48delinsTTCG
ENST00000381175.5:c.777-51_777-48delinsTTCG	ENSP00000370567.1:n.777-51_777-48delinsTTCG
ENST00000381178.5:c.789-51_789-48delinsTTCG	ENSP00000370571.1:n.789-51_789-48delinsTTCG
ENST00000412076.1:c.135+352_135+355delinsTTCG
ENST00000416223.5:c.136-315_136-312delinsTTCG
ENST00000469226.1:n.825-51_825-48delinsTTCG
ENST00000479437.5:n.194_197delinsTTCG
NM_000360.3:c.696-51_696-48delinsTTCG	NP_000351.2:n.696-51_696-48delinsTTCG
NM_199292.2:c.789-51_789-48delinsTTCG	NP_954986.2:n.789-51_789-48delinsTTCG
NM_199293.2:c.777-51_777-48delinsTTCG	NP_954987.2:n.777-51_777-48delinsTTCG
XM_011520335.1:c.708-51_708-48delinsTTCG	XP_011518637.1:n.708-51_708-48delinsTTCG
XM_011520335.2:c.708-51_708-48delinsTTCG	XP_011518637.1:n.708-51_708-48delinsTTCG
NM_000360.4:c.696-51_696-48delinsTTCG MANE Select	NP_000351.2:n.696-51_696-48delinsTTCG
NM_199292.3:c.789-51_789-48delinsTTCG	NP_954986.2:n.789-51_789-48delinsTTCG
NM_199293.3:c.777-51_777-48delinsTTCG	NP_954987.2:n.777-51_777-48delinsTTCG