Canonical Allele Identifier: CA2611964347

Gene: TH

Linked Data

• gnomAD v4: 11-2166916-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166921del , CM000673.2:g.2166921del	GRCh38
NC_000011.9:g.2188151del , CM000673.1:g.2188151del	GRCh37
NC_000011.8:g.2144727del	NCBI36
NG_008128.1:g.9889del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.811del MANE Select	ENSP00000325951.4:p.Gln271SerfsTer9
ENST00000324155.8:c.*500del	ENSP00000325831.3:n.*500del
ENST00000333684.9:c.696-368del	ENSP00000328814.6:n.696-368del
ENST00000352909.7:c.811del	ENSP00000325951.3:p.Gln271SerfsTer9
ENST00000381168.7:c.*531del	ENSP00000370560.3:n.*531del
ENST00000381175.5:c.892del	ENSP00000370567.1:p.Gln298SerfsTer9
ENST00000381178.5:c.904del	ENSP00000370571.1:p.Gln302SerfsTer9
ENST00000412076.1:c.136-368del
ENST00000416223.5:c.136-149del
ENST00000469226.1:n.940del
ENST00000479437.5:n.360del
NM_000360.3:c.811del	NP_000351.2:p.Gln271SerfsTer9
NM_199292.2:c.904del	NP_954986.2:p.Gln302SerfsTer9
NM_199293.2:c.892del	NP_954987.2:p.Gln298SerfsTer9
XM_011520335.1:c.823del	XP_011518637.1:p.Gln275SerfsTer9
XM_011520335.2:c.823del	XP_011518637.1:p.Gln275SerfsTer9
NM_000360.4:c.811del MANE Select	NP_000351.2:p.Gln271SerfsTer9
NM_199292.3:c.904del	NP_954986.2:p.Gln302SerfsTer9
NM_199293.3:c.892del	NP_954987.2:p.Gln298SerfsTer9