Canonical Allele Identifier: CA16619887
Gene: TSHR HGNC NCBI

Linked Data

ClinVar Variation Id: 420145
ClinVar RCV Id: RCV000483426 RCV003962336
dbSNP Id: rs1064794318
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81068278_81068281delinsTCCT , CM000676.2:g.81068278_81068281delinsTCCT GRCh38
NC_000014.8:g.81534622_81534625delinsTCCT , CM000676.1:g.81534622_81534625delinsTCCT GRCh37
NC_000014.7:g.80604375_80604378delinsTCCT NCBI36
NG_009206.1:g.117754_117757delinsTCCT , LRG_523:g.117754_117757delinsTCCT

Transcript Alleles

HGVS Amino-acid change
ENST00000298171.7:c.267_270delinsTCCT MANE Select ENSP00000298171.2:p.Gln90Pro
ENST00000298171.6:c.267_270delinsTCCT ENSP00000298171.2:p.Gln90Pro
ENST00000342443.10:c.267_270delinsTCCT ENSP00000340113.6:p.Gln90Pro
ENST00000541158.6:c.267_270delinsTCCT ENSP00000441235.2:p.Gln90Pro
ENST00000553763.1:n.367_370delinsTCCT
ENST00000554263.5:c.267_270delinsTCCT ENSP00000451202.1:p.Gln90Pro
ENST00000554435.1:c.267_270delinsTCCT ENSP00000450549.1:p.Gln90Pro
ENST00000555326.5:c.267_270delinsTCCT ENSP00000451092.1:p.Gln90Pro
NM_000369.2:c.267_270delinsTCCT , LRG_523t1:c.267_270delinsTCCT NP_000360.2:p.Gln90Pro
NM_001018036.2:c.267_270delinsTCCT NP_001018046.1:p.Gln90Pro
NM_001142626.2:c.267_270delinsTCCT NP_001136098.1:p.Gln90Pro
XM_005268037.3:c.267_270delinsTCCT XP_005268094.1:p.Gln90Pro
XM_005268039.1:c.267_270delinsTCCT XP_005268096.1:p.Gln90Pro
XM_006720245.1:c.267_270delinsTCCT XP_006720308.1:p.Gln90Pro
XM_011537119.1:c.-62_-59delinsTCCT XP_011535421.1:n.-62_-59delinsTCCT
XR_245790.3:n.3676-14465_3676-14462delinsAGGA
XR_944075.1:n.2549-14465_2549-14462delinsAGGA
XR_944076.1:n.1442-14465_1442-14462delinsAGGA
XR_944077.1:n.2455-14465_2455-14462delinsAGGA
XR_944078.1:n.2455-14465_2455-14462delinsAGGA
XM_005268037.4:c.267_270delinsTCCT XP_005268094.1:p.Gln90Pro
XM_011537119.2:c.-62_-59delinsTCCT XP_011535421.1:n.-62_-59delinsTCCT
XR_001751018.2:n.1989-14465_1989-14462delinsAGGA
XR_001751019.2:n.1895-14465_1895-14462delinsAGGA
XR_001751020.2:n.886-14465_886-14462delinsAGGA
XR_001751021.1:n.4437-14465_4437-14462delinsAGGA
XR_001751022.1:n.3334-14465_3334-14462delinsAGGA
XR_001751023.1:n.4476-14465_4476-14462delinsAGGA
XR_001751024.2:n.1989-14465_1989-14462delinsAGGA
XR_944075.3:n.2613-14465_2613-14462delinsAGGA
NM_000369.4:c.267_270delinsTCCT NP_000360.2:p.Gln90Pro
NM_001018036.3:c.267_270delinsTCCT NP_001018046.1:p.Gln90Pro
NM_001142626.3:c.267_270delinsTCCT NP_001136098.1:p.Gln90Pro
NM_000369.5:c.267_270delinsTCCT MANE Select NP_000360.2:p.Gln90Pro
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