Canonical Allele Identifier: CA891862723

Gene: TH

Linked Data

• ClinVar Variation Id: 590824
• ClinVar RCV Id: RCV000721988
• dbSNP Id: rs1564918287
• MyVariant Identifiers: chr11:g.2188243_2188244del (hg19) ; chr11:g.2167013_2167014del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167014_2167015del , CM000673.2:g.2167014_2167015del	GRCh38
NC_000011.9:g.2188244_2188245del , CM000673.1:g.2188244_2188245del	GRCh37
NC_000011.8:g.2144820_2144821del	NCBI36
NG_008128.1:g.9792_9793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.714_715del MANE Select	ENSP00000325951.4:p.Leu239GlufsTer?
ENST00000324155.8:c.*403_*404del	ENSP00000325831.3:n.*403_*404del
ENST00000333684.9:c.695+421_695+422del	ENSP00000328814.6:n.695+421_695+422del
ENST00000352909.7:c.714_715del	ENSP00000325951.3:p.Leu239GlufsTer?
ENST00000381168.7:c.*434_*435del	ENSP00000370560.3:n.*434_*435del
ENST00000381175.5:c.795_796del	ENSP00000370567.1:p.Leu266GlufsTer?
ENST00000381178.5:c.807_808del	ENSP00000370571.1:p.Leu270GlufsTer?
ENST00000412076.1:c.135+421_135+422del
ENST00000416223.5:c.136-246_136-245del
ENST00000469226.1:n.843_844del
ENST00000479437.5:n.263_264del
NM_000360.3:c.714_715del	NP_000351.2:p.Leu239GlufsTer?
NM_199292.2:c.807_808del	NP_954986.2:p.Leu270GlufsTer?
NM_199293.2:c.795_796del	NP_954987.2:p.Leu266GlufsTer?
XM_011520335.1:c.726_727del	XP_011518637.1:p.Leu243GlufsTer?
XM_011520335.2:c.726_727del	XP_011518637.1:p.Leu243GlufsTer?
NM_000360.4:c.714_715del MANE Select	NP_000351.2:p.Leu239GlufsTer?
NM_199292.3:c.807_808del	NP_954986.2:p.Leu270GlufsTer?
NM_199293.3:c.795_796del	NP_954987.2:p.Leu266GlufsTer?