Canonical Allele Identifier: CA934419421

Gene: TH

Linked Data

• gnomAD v3: 11-2167069-ACCCCAGTGCCC-A
• gnomAD v4: 11-2167069-ACCCCAGTGCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167070_2167080del , CM000673.2:g.2167070_2167080del	GRCh38
NC_000011.9:g.2188300_2188310del , CM000673.1:g.2188300_2188310del	GRCh37
NC_000011.8:g.2144876_2144886del	NCBI36
NG_008128.1:g.9726_9736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-48_696-38del MANE Select	ENSP00000325951.4:n.696-48_696-38del
ENST00000324155.8:c.*385-48_*385-38del	ENSP00000325831.3:n.*385-48_*385-38del
ENST00000333684.9:c.695+355_695+365del	ENSP00000328814.6:n.695+355_695+365del
ENST00000352909.7:c.696-48_696-38del	ENSP00000325951.3:n.696-48_696-38del
ENST00000381168.7:c.*416-48_*416-38del	ENSP00000370560.3:n.*416-48_*416-38del
ENST00000381175.5:c.777-48_777-38del	ENSP00000370567.1:n.777-48_777-38del
ENST00000381178.5:c.789-48_789-38del	ENSP00000370571.1:n.789-48_789-38del
ENST00000412076.1:c.135+355_135+365del
ENST00000416223.5:c.136-312_136-302del
ENST00000469226.1:n.825-48_825-38del
ENST00000479437.5:n.197_207del
NM_000360.3:c.696-48_696-38del	NP_000351.2:n.696-48_696-38del
NM_199292.2:c.789-48_789-38del	NP_954986.2:n.789-48_789-38del
NM_199293.2:c.777-48_777-38del	NP_954987.2:n.777-48_777-38del
XM_011520335.1:c.708-48_708-38del	XP_011518637.1:n.708-48_708-38del
XM_011520335.2:c.708-48_708-38del	XP_011518637.1:n.708-48_708-38del
NM_000360.4:c.696-48_696-38del MANE Select	NP_000351.2:n.696-48_696-38del
NM_199292.3:c.789-48_789-38del	NP_954986.2:n.789-48_789-38del
NM_199293.3:c.777-48_777-38del	NP_954987.2:n.777-48_777-38del