Canonical Allele Identifier: CA2611961836

Gene: TH

Linked Data

• gnomAD v4: 11-2166529-AGCAGCTCGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166535_2166544del , CM000673.2:g.2166535_2166544del	GRCh38
NC_000011.9:g.2187765_2187774del , CM000673.1:g.2187765_2187774del	GRCh37
NC_000011.8:g.2144341_2144350del	NCBI36
NG_008128.1:g.10267_10276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.988_997del MANE Select	ENSP00000325951.4:p.His330TrpfsTer?
ENST00000324155.8:c.*677_*686del	ENSP00000325831.3:n.*677_*686del
ENST00000333684.9:c.706_715del	ENSP00000328814.6:p.His236TrpfsTer?
ENST00000352909.7:c.988_997del	ENSP00000325951.3:p.His330TrpfsTer?
ENST00000381168.7:c.*708_*717del	ENSP00000370560.3:n.*708_*717del
ENST00000381175.5:c.1069_1078del	ENSP00000370567.1:p.His357TrpfsTer?
ENST00000381178.5:c.1081_1090del	ENSP00000370571.1:p.His361TrpfsTer?
ENST00000412076.1:c.146_155del
ENST00000416223.5:c.282_291del
ENST00000461172.1:n.153_162del
ENST00000479437.5:n.537_546del
NM_000360.3:c.988_997del	NP_000351.2:p.His330TrpfsTer?
NM_199292.2:c.1081_1090del	NP_954986.2:p.His361TrpfsTer?
NM_199293.2:c.1069_1078del	NP_954987.2:p.His357TrpfsTer?
XM_011520335.1:c.1000_1009del	XP_011518637.1:p.His334TrpfsTer?
XM_011520335.2:c.1000_1009del	XP_011518637.1:p.His334TrpfsTer?
NM_000360.4:c.988_997del MANE Select	NP_000351.2:p.His330TrpfsTer?
NM_199292.3:c.1081_1090del	NP_954986.2:p.His361TrpfsTer?
NM_199293.3:c.1069_1078del	NP_954987.2:p.His357TrpfsTer?