Canonical Allele Identifier: CA597431668
Gene: TH HGNC NCBI

Linked Data

ClinVar Variation Id: 1434602
ClinVar RCV Id: RCV001955036
dbSNP Id: rs1388275002
gnomAD v2: 11-2190861-A-ACGAAGGCCACCAGCTCACCTCAAACACCTTCACAGCTCGGGACAG
gnomAD v3: 11-2169631-A-ACGAAGGCCACCAGCTCACCTCAAACACCTTCACAGCTCGGGACAG
gnomAD v4: 11-2169631-A-ACGAAGGCCACCAGCTCACCTCAAACACCTTCACAGCTCGGGACAG
MyVariant Identifiers: chr11:g.2190861_2190862insCGAAGGCCACCAGCTCACCTCAAACACCTTCACAGCTCGGGACAG (hg19) chr11:g.2169631_2169632insCGAAGGCCACCAGCTCACCTCAAACACCTTCACAGCTCGGGACAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2169634_2169678dup , CM000673.2:g.2169634_2169678dup GRCh38
NC_000011.9:g.2190864_2190908dup , CM000673.1:g.2190864_2190908dup GRCh37
NC_000011.8:g.2147440_2147484dup NCBI36
NG_008128.1:g.7130_7174dup

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.286_312+18dup
ENST00000324155.8:c.110_*1+18dup
ENST00000333684.9:c.286_312+18dup
ENST00000352909.7:c.286_312+18dup
ENST00000381168.7:c.122_*1+18dup
ENST00000381175.5:c.367_393+18dup
ENST00000381178.5:c.379_405+18dup
NM_000360.3:c.286_312+18dup
NM_199292.2:c.379_405+18dup
NM_199293.2:c.367_393+18dup
XM_011520335.1:c.298_324+18dup
XM_011520335.2:c.298_324+18dup
NM_000360.4:c.286_312+18dup
NM_199292.3:c.379_405+18dup
NM_199293.3:c.367_393+18dup
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