Canonical Allele Identifier: CA16041467
Gene: TH HGNC NCBI

Linked Data

ClinVar Variation Id: 370929
ClinVar RCV Id: RCV000409032
dbSNP Id: rs1057516874
MyVariant Identifiers: chr11:g.2191085_2191110del (hg19) chr11:g.2169855_2169880del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2169856_2169881del , CM000673.2:g.2169856_2169881del GRCh38
NC_000011.9:g.2191086_2191111del , CM000673.1:g.2191086_2191111del GRCh37
NC_000011.8:g.2147662_2147687del NCBI36
NG_008128.1:g.6926_6951del

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.91-9_107del
ENST00000324155.8:c.91-185_91-160del ENSP00000325831.3:n.91-185_91-160del
ENST00000333684.9:c.91-9_107del
ENST00000352909.7:c.91-9_107del
ENST00000381168.7:c.103-185_103-160del ENSP00000370560.3:n.103-185_103-160del
ENST00000381175.5:c.172-9_188del
ENST00000381178.5:c.184-9_200del
NM_000360.3:c.91-9_107del
NM_199292.2:c.184-9_200del
NM_199293.2:c.172-9_188del
XM_011520335.1:c.103-9_119del
XM_011520335.2:c.103-9_119del
NM_000360.4:c.91-9_107del
NM_199292.3:c.184-9_200del
NM_199293.3:c.172-9_188del
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