Canonical Allele Identifier: CA2611963588

Gene: TH

Linked Data

• gnomAD v4: 11-2166723-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166724del , CM000673.2:g.2166724del	GRCh38
NC_000011.9:g.2187954del , CM000673.1:g.2187954del	GRCh37
NC_000011.8:g.2144530del	NCBI36
NG_008128.1:g.10082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.886del MANE Select	ENSP00000325951.4:p.Ala296ProfsTer?
ENST00000324155.8:c.*575del	ENSP00000325831.3:n.*575del
ENST00000333684.9:c.696-175del	ENSP00000328814.6:n.696-175del
ENST00000352909.7:c.886del	ENSP00000325951.3:p.Ala296ProfsTer?
ENST00000381168.7:c.*606del	ENSP00000370560.3:n.*606del
ENST00000381175.5:c.967del	ENSP00000370567.1:p.Ala323ProfsTer?
ENST00000381178.5:c.979del	ENSP00000370571.1:p.Ala327ProfsTer?
ENST00000412076.1:c.136-175del
ENST00000416223.5:c.180del
ENST00000461172.1:n.51del
ENST00000479437.5:n.435del
NM_000360.3:c.886del	NP_000351.2:p.Ala296ProfsTer?
NM_199292.2:c.979del	NP_954986.2:p.Ala327ProfsTer?
NM_199293.2:c.967del	NP_954987.2:p.Ala323ProfsTer?
XM_011520335.1:c.898del	XP_011518637.1:p.Ala300ProfsTer?
XM_011520335.2:c.898del	XP_011518637.1:p.Ala300ProfsTer?
NM_000360.4:c.886del MANE Select	NP_000351.2:p.Ala296ProfsTer?
NM_199292.3:c.979del	NP_954986.2:p.Ala327ProfsTer?
NM_199293.3:c.967del	NP_954987.2:p.Ala323ProfsTer?