Canonical Allele Identifier: CA5818863

Gene: TH

Linked Data

• ClinVar Variation Id: 555224
• ClinVar RCV Id: RCV000671003
• dbSNP Id: rs780485650
• ExAC: 11:2192917 G / GC
• gnomAD v2: 11-2192917-G-GC
• gnomAD v3: 11-2171687-G-GC
• gnomAD v4: 11-2171687-G-GC
• MyVariant Identifiers: chr11:g.2192917_2192918insC (hg19) ; chr11:g.2171688dup (hg38) ; chr11:g.2171687_2171688insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171690dup , CM000673.2:g.2171690dup	GRCh38
NC_000011.9:g.2192920dup , CM000673.1:g.2192920dup	GRCh37
NC_000011.8:g.2149496dup	NCBI36
NG_008128.1:g.5118dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.90+9dup MANE Select	ENSP00000325951.4:n.90+9dup
ENST00000324155.8:c.90+9dup	ENSP00000325831.3:n.90+9dup
ENST00000333684.9:c.90+9dup	ENSP00000328814.6:n.90+9dup
ENST00000352909.7:c.90+9dup	ENSP00000325951.3:n.90+9dup
ENST00000381168.7:c.99dup	ENSP00000370560.3:p.Gln34AlafsTer13
ENST00000381175.5:c.90+9dup	ENSP00000370567.1:n.90+9dup
ENST00000381178.5:c.99dup	ENSP00000370571.1:p.Gln34AlafsTer?
NM_000360.3:c.90+9dup	NP_000351.2:n.90+9dup
NM_199292.2:c.99dup	NP_954986.2:p.Gln34AlafsTer?
NM_199293.2:c.90+9dup	NP_954987.2:n.90+9dup
XM_011520335.1:c.99dup	XP_011518637.1:p.Gln34AlafsTer?
XM_011520335.2:c.99dup	XP_011518637.1:p.Gln34AlafsTer?
NM_000360.4:c.90+9dup MANE Select	NP_000351.2:n.90+9dup
NM_199292.3:c.99dup	NP_954986.2:p.Gln34AlafsTer?
NM_199293.3:c.90+9dup	NP_954987.2:n.90+9dup