Canonical Allele Identifier: CA2573146038

Gene: TH

Linked Data

• dbSNP Id: rs2133693580

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166948del , CM000673.2:g.2166948del	GRCh38
NC_000011.9:g.2188178del , CM000673.1:g.2188178del	GRCh37
NC_000011.8:g.2144754del	NCBI36
NG_008128.1:g.9858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.780del MANE Select	ENSP00000325951.4:p.Phe261SerfsTer19
ENST00000324155.8:c.*469del	ENSP00000325831.3:n.*469del
ENST00000333684.9:c.696-399del	ENSP00000328814.6:n.696-399del
ENST00000352909.7:c.780del	ENSP00000325951.3:p.Phe261SerfsTer19
ENST00000381168.7:c.*500del	ENSP00000370560.3:n.*500del
ENST00000381175.5:c.861del	ENSP00000370567.1:p.Phe288SerfsTer19
ENST00000381178.5:c.873del	ENSP00000370571.1:p.Phe292SerfsTer19
ENST00000412076.1:c.136-399del
ENST00000416223.5:c.136-180del
ENST00000469226.1:n.909del
ENST00000479437.5:n.329del
NM_000360.3:c.780del	NP_000351.2:p.Phe261SerfsTer19
NM_199292.2:c.873del	NP_954986.2:p.Phe292SerfsTer19
NM_199293.2:c.861del	NP_954987.2:p.Phe288SerfsTer19
XM_011520335.1:c.792del	XP_011518637.1:p.Phe265SerfsTer19
XM_011520335.2:c.792del	XP_011518637.1:p.Phe265SerfsTer19
NM_000360.4:c.780del MANE Select	NP_000351.2:p.Phe261SerfsTer19
NM_199292.3:c.873del	NP_954986.2:p.Phe292SerfsTer19
NM_199293.3:c.861del	NP_954987.2:p.Phe288SerfsTer19