Canonical Allele Identifier: CA658821339

Gene: TH

Linked Data

• ClinVar Variation Id: 550959
• ClinVar RCV Id: RCV000665867
• dbSNP Id: rs1554923810
• MyVariant Identifiers: chr11:g.2169666_2169684dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169669_2169687dup , CM000673.2:g.2169669_2169687dup	GRCh38
NC_000011.9:g.2190899_2190917dup , CM000673.1:g.2190899_2190917dup	GRCh37
NC_000011.8:g.2147475_2147493dup	NCBI36
NG_008128.1:g.7122_7140dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.278_296dup MANE Select	ENSP00000325951.4:p.Val100LeufsTer11
ENST00000324155.8:c.102_120dup	ENSP00000325831.3:p.Cys41ProfsTer8
ENST00000333684.9:c.278_296dup	ENSP00000328814.6:p.Val100LeufsTer11
ENST00000352909.7:c.278_296dup	ENSP00000325951.3:p.Val100LeufsTer11
ENST00000381168.7:c.114_132dup	ENSP00000370560.3:p.Cys45ProfsTer8
ENST00000381175.5:c.359_377dup	ENSP00000370567.1:p.Val127LeufsTer11
ENST00000381178.5:c.371_389dup	ENSP00000370571.1:p.Val131LeufsTer11
NM_000360.3:c.278_296dup	NP_000351.2:p.Val100LeufsTer11
NM_199292.2:c.371_389dup	NP_954986.2:p.Val131LeufsTer11
NM_199293.2:c.359_377dup	NP_954987.2:p.Val127LeufsTer11
XM_011520335.1:c.290_308dup	XP_011518637.1:p.Val104LeufsTer11
XM_011520335.2:c.290_308dup	XP_011518637.1:p.Val104LeufsTer11
NM_000360.4:c.278_296dup MANE Select	NP_000351.2:p.Val100LeufsTer11
NM_199292.3:c.371_389dup	NP_954986.2:p.Val131LeufsTer11
NM_199293.3:c.359_377dup	NP_954987.2:p.Val127LeufsTer11