Canonical Allele Identifier: CA2580082655

Gene: TH

Linked Data

• ClinVar Variation Id: 2030178
• ClinVar RCV Id: RCV002881195

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166632del , CM000673.2:g.2166632del	GRCh38
NC_000011.9:g.2187862del , CM000673.1:g.2187862del	GRCh37
NC_000011.8:g.2144438del	NCBI36
NG_008128.1:g.10174del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.977+1del MANE Select	ENSP00000325951.4:n.977+1del
ENST00000324155.8:c.*666+1del	ENSP00000325831.3:n.*666+1del
ENST00000333684.9:c.696-83del	ENSP00000328814.6:n.696-83del
ENST00000352909.7:c.977+1del	ENSP00000325951.3:n.977+1del
ENST00000381168.7:c.*697+1del	ENSP00000370560.3:n.*697+1del
ENST00000381175.5:c.1058+1del	ENSP00000370567.1:n.1058+1del
ENST00000381178.5:c.1070+1del	ENSP00000370571.1:n.1070+1del
ENST00000412076.1:c.136-83del
ENST00000416223.5:c.271+1del
ENST00000461172.1:n.142+1del
ENST00000479437.5:n.526+1del
NM_000360.3:c.977+1del	NP_000351.2:n.977+1del
NM_199292.2:c.1070+1del	NP_954986.2:n.1070+1del
NM_199293.2:c.1058+1del	NP_954987.2:n.1058+1del
XM_011520335.1:c.989+1del	XP_011518637.1:n.989+1del
XM_011520335.2:c.989+1del	XP_011518637.1:n.989+1del
NM_000360.4:c.977+1del MANE Select	NP_000351.2:n.977+1del
NM_199292.3:c.1070+1del	NP_954986.2:n.1070+1del
NM_199293.3:c.1058+1del	NP_954987.2:n.1058+1del