Canonical Allele Identifier: CA2611964486

Gene: TH

Linked Data

• gnomAD v4: 11-2166935-GGTAGCCGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166937_2166945del , CM000673.2:g.2166937_2166945del	GRCh38
NC_000011.9:g.2188167_2188175del , CM000673.1:g.2188167_2188175del	GRCh37
NC_000011.8:g.2144743_2144751del	NCBI36
NG_008128.1:g.9862_9870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.784_792del MANE Select	ENSP00000325951.4:p.Ser262_Tyr264del
ENST00000324155.8:c.*473_*481del	ENSP00000325831.3:n.*473_*481del
ENST00000333684.9:c.696-395_696-387del	ENSP00000328814.6:n.696-395_696-387del
ENST00000352909.7:c.784_792del	ENSP00000325951.3:p.Ser262_Tyr264del
ENST00000381168.7:c.*504_*512del	ENSP00000370560.3:n.*504_*512del
ENST00000381175.5:c.865_873del	ENSP00000370567.1:p.Ser289_Tyr291del
ENST00000381178.5:c.877_885del	ENSP00000370571.1:p.Ser293_Tyr295del
ENST00000412076.1:c.136-395_136-387del
ENST00000416223.5:c.136-176_136-168del
ENST00000469226.1:n.913_921del
ENST00000479437.5:n.333_341del
NM_000360.3:c.784_792del	NP_000351.2:p.Ser262_Tyr264del
NM_199292.2:c.877_885del	NP_954986.2:p.Ser293_Tyr295del
NM_199293.2:c.865_873del	NP_954987.2:p.Ser289_Tyr291del
XM_011520335.1:c.796_804del	XP_011518637.1:p.Ser266_Tyr268del
XM_011520335.2:c.796_804del	XP_011518637.1:p.Ser266_Tyr268del
NM_000360.4:c.784_792del MANE Select	NP_000351.2:p.Ser262_Tyr264del
NM_199292.3:c.877_885del	NP_954986.2:p.Ser293_Tyr295del
NM_199293.3:c.865_873del	NP_954987.2:p.Ser289_Tyr291del