Canonical Allele Identifier: CA4842765
Gene: TRHR HGNC NCBI

Linked Data

dbSNP Id: rs761141454
ExAC: 8:110099826 ATCTTACT / A
gnomAD v2: 8-110099826-ATCTTACT-A
gnomAD v4: 8-109087597-ATCTTACT-A
MyVariant Identifiers: chr8:g.110099827_110099833del (hg19) chr8:g.109087598_109087604del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.109087599_109087605del , CM000670.2:g.109087599_109087605del GRCh38
NC_000008.10:g.110099828_110099834del , CM000670.1:g.110099828_110099834del GRCh37
NC_000008.9:g.110169004_110169010del NCBI36
NG_017161.1:g.5153_5159del

Transcript Alleles

HGVS Amino-acid Change
ENST00000518632.2:c.87_93del MANE Select ENSP00000430711.2:p.Ile29MetfsTer11
ENST00000311762.2:c.87_93del ENSP00000309818.2:p.Ile29MetfsTer11
ENST00000518632.1:c.87_93del ENSP00000430711.1:p.Ile29MetfsTer11
NM_003301.5:c.87_93del NP_003292.1:p.Ile29MetfsTer11
XM_011517263.1:c.87_93del XP_011515565.1:p.Ile29MetfsTer11
XM_011517263.2:c.87_93del XP_011515565.1:p.Ile29MetfsTer11
NM_003301.7:c.87_93del MANE Select NP_003292.1:p.Ile29MetfsTer11
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