Canonical Allele Identifier: CA934419432

Gene: TH

Linked Data

• dbSNP Id: rs1846120370
• gnomAD v3: 11-2167096-AACT-A
• gnomAD v4: 11-2167096-AACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167097_2167099del , CM000673.2:g.2167097_2167099del	GRCh38
NC_000011.9:g.2188327_2188329del , CM000673.1:g.2188327_2188329del	GRCh37
NC_000011.8:g.2144903_2144905del	NCBI36
NG_008128.1:g.9707_9709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-67_696-65del MANE Select	ENSP00000325951.4:n.696-67_696-65del
ENST00000324155.8:c.*385-67_*385-65del	ENSP00000325831.3:n.*385-67_*385-65del
ENST00000333684.9:c.695+336_695+338del	ENSP00000328814.6:n.695+336_695+338del
ENST00000352909.7:c.696-67_696-65del	ENSP00000325951.3:n.696-67_696-65del
ENST00000381168.7:c.*416-67_*416-65del	ENSP00000370560.3:n.*416-67_*416-65del
ENST00000381175.5:c.777-67_777-65del	ENSP00000370567.1:n.777-67_777-65del
ENST00000381178.5:c.789-67_789-65del	ENSP00000370571.1:n.789-67_789-65del
ENST00000412076.1:c.135+336_135+338del
ENST00000416223.5:c.136-331_136-329del
ENST00000469226.1:n.825-67_825-65del
ENST00000479437.5:n.178_180del
NM_000360.3:c.696-67_696-65del	NP_000351.2:n.696-67_696-65del
NM_199292.2:c.789-67_789-65del	NP_954986.2:n.789-67_789-65del
NM_199293.2:c.777-67_777-65del	NP_954987.2:n.777-67_777-65del
XM_011520335.1:c.708-67_708-65del	XP_011518637.1:n.708-67_708-65del
XM_011520335.2:c.708-67_708-65del	XP_011518637.1:n.708-67_708-65del
NM_000360.4:c.696-67_696-65del MANE Select	NP_000351.2:n.696-67_696-65del
NM_199292.3:c.789-67_789-65del	NP_954986.2:n.789-67_789-65del
NM_199293.3:c.777-67_777-65del	NP_954987.2:n.777-67_777-65del