Canonical Allele Identifier: CA2611964487

Gene: TH

Linked Data

• gnomAD v4: 11-2166935-GGTAGCCGCTGAAGCGCTCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166937_2166956del , CM000673.2:g.2166937_2166956del	GRCh38
NC_000011.9:g.2188167_2188186del , CM000673.1:g.2188167_2188186del	GRCh37
NC_000011.8:g.2144743_2144762del	NCBI36
NG_008128.1:g.9851_9870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.773_792del MANE Select	ENSP00000325951.4:p.Leu258ProfsTer?
ENST00000324155.8:c.*462_*481del	ENSP00000325831.3:n.*462_*481del
ENST00000333684.9:c.696-406_696-387del	ENSP00000328814.6:n.696-406_696-387del
ENST00000352909.7:c.773_792del	ENSP00000325951.3:p.Leu258ProfsTer?
ENST00000381168.7:c.*493_*512del	ENSP00000370560.3:n.*493_*512del
ENST00000381175.5:c.854_873del	ENSP00000370567.1:p.Leu285ProfsTer?
ENST00000381178.5:c.866_885del	ENSP00000370571.1:p.Leu289ProfsTer?
ENST00000412076.1:c.136-406_136-387del
ENST00000416223.5:c.136-187_136-168del
ENST00000469226.1:n.902_921del
ENST00000479437.5:n.322_341del
NM_000360.3:c.773_792del	NP_000351.2:p.Leu258ProfsTer?
NM_199292.2:c.866_885del	NP_954986.2:p.Leu289ProfsTer?
NM_199293.2:c.854_873del	NP_954987.2:p.Leu285ProfsTer?
XM_011520335.1:c.785_804del	XP_011518637.1:p.Leu262ProfsTer?
XM_011520335.2:c.785_804del	XP_011518637.1:p.Leu262ProfsTer?
NM_000360.4:c.773_792del MANE Select	NP_000351.2:p.Leu258ProfsTer?
NM_199292.3:c.866_885del	NP_954986.2:p.Leu289ProfsTer?
NM_199293.3:c.854_873del	NP_954987.2:p.Leu285ProfsTer?