Canonical Allele Identifier: CA674607087

Gene: TH

Linked Data

• ClinVar Variation Id: 2679199
• ClinVar RCV Id: RCV003474114
• dbSNP Id: rs1476695915
• gnomAD v3: 11-2166904-ACGTC-A
• gnomAD v4: 11-2166904-ACGTC-A
• MyVariant Identifiers: chr11:g.2188135_2188138del (hg19) ; chr11:g.2166905_2166908del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166906_2166909del , CM000673.2:g.2166906_2166909del	GRCh38
NC_000011.9:g.2188136_2188139del , CM000673.1:g.2188136_2188139del	GRCh37
NC_000011.8:g.2144712_2144715del	NCBI36
NG_008128.1:g.9898_9901del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.820_823del MANE Select	ENSP00000325951.4:p.Asp274SerfsTer5
ENST00000324155.8:c.*509_*512del	ENSP00000325831.3:n.*509_*512del
ENST00000333684.9:c.696-359_696-356del	ENSP00000328814.6:n.696-359_696-356del
ENST00000352909.7:c.820_823del	ENSP00000325951.3:p.Asp274SerfsTer5
ENST00000381168.7:c.*540_*543del	ENSP00000370560.3:n.*540_*543del
ENST00000381175.5:c.901_904del	ENSP00000370567.1:p.Asp301SerfsTer5
ENST00000381178.5:c.913_916del	ENSP00000370571.1:p.Asp305SerfsTer5
ENST00000412076.1:c.136-359_136-356del
ENST00000416223.5:c.136-140_136-137del
ENST00000469226.1:n.949_952del
ENST00000479437.5:n.369_372del
NM_000360.3:c.820_823del	NP_000351.2:p.Asp274SerfsTer5
NM_199292.2:c.913_916del	NP_954986.2:p.Asp305SerfsTer5
NM_199293.2:c.901_904del	NP_954987.2:p.Asp301SerfsTer5
XM_011520335.1:c.832_835del	XP_011518637.1:p.Asp278SerfsTer5
XM_011520335.2:c.832_835del	XP_011518637.1:p.Asp278SerfsTer5
NM_000360.4:c.820_823del MANE Select	NP_000351.2:p.Asp274SerfsTer5
NM_199292.3:c.913_916del	NP_954986.2:p.Asp305SerfsTer5
NM_199293.3:c.901_904del	NP_954987.2:p.Asp301SerfsTer5