Canonical Allele Identifier: CA2611965075

Gene: TH

Linked Data

• gnomAD v4: 11-2167017-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167020_2167021del , CM000673.2:g.2167020_2167021del	GRCh38
NC_000011.9:g.2188250_2188251del , CM000673.1:g.2188250_2188251del	GRCh37
NC_000011.8:g.2144826_2144827del	NCBI36
NG_008128.1:g.9787_9788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.709_710del MANE Select	ENSP00000325951.4:p.Thr237HisfsTer?
ENST00000324155.8:c.*398_*399del	ENSP00000325831.3:n.*398_*399del
ENST00000333684.9:c.695+416_695+417del	ENSP00000328814.6:n.695+416_695+417del
ENST00000352909.7:c.709_710del	ENSP00000325951.3:p.Thr237HisfsTer?
ENST00000381168.7:c.*429_*430del	ENSP00000370560.3:n.*429_*430del
ENST00000381175.5:c.790_791del	ENSP00000370567.1:p.Thr264HisfsTer?
ENST00000381178.5:c.802_803del	ENSP00000370571.1:p.Thr268HisfsTer?
ENST00000412076.1:c.135+416_135+417del
ENST00000416223.5:c.136-251_136-250del
ENST00000469226.1:n.838_839del
ENST00000479437.5:n.258_259del
NM_000360.3:c.709_710del	NP_000351.2:p.Thr237HisfsTer?
NM_199292.2:c.802_803del	NP_954986.2:p.Thr268HisfsTer?
NM_199293.2:c.790_791del	NP_954987.2:p.Thr264HisfsTer?
XM_011520335.1:c.721_722del	XP_011518637.1:p.Thr241HisfsTer?
XM_011520335.2:c.721_722del	XP_011518637.1:p.Thr241HisfsTer?
NM_000360.4:c.709_710del MANE Select	NP_000351.2:p.Thr237HisfsTer?
NM_199292.3:c.802_803del	NP_954986.2:p.Thr268HisfsTer?
NM_199293.3:c.790_791del	NP_954987.2:p.Thr264HisfsTer?