Canonical Allele Identifier: CA2503979275
Gene: TSHR HGNC NCBI

Linked Data

dbSNP Id: rs2139985500

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81092613_81092614insCTTAATCT , CM000676.2:g.81092613_81092614insCTTAATCT GRCh38
NC_000014.8:g.81558957_81558958insCTTAATCT , CM000676.1:g.81558957_81558958insCTTAATCT GRCh37
NC_000014.7:g.80628710_80628711insCTTAATCT NCBI36
NG_009206.1:g.142089_142090insCTTAATCT , LRG_523:g.142089_142090insCTTAATCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000298171.7:c.545+5_545+6insCTTAATCT MANE Select ENSP00000298171.2:n.545+5_545+6insCTTAATCT
ENST00000636454.1:n.463+5_463+6insCTTAATCT
ENST00000298171.6:c.545+5_545+6insCTTAATCT ENSP00000298171.2:n.545+5_545+6insCTTAATCT
ENST00000342443.10:c.545+5_545+6insCTTAATCT ENSP00000340113.6:n.545+5_545+6insCTTAATCT
ENST00000541158.6:c.545+5_545+6insCTTAATCT ENSP00000441235.2:n.545+5_545+6insCTTAATCT
ENST00000554263.5:c.545+5_545+6insCTTAATCT ENSP00000451202.1:n.545+5_545+6insCTTAATCT
ENST00000554435.1:c.545+5_545+6insCTTAATCT ENSP00000450549.1:n.545+5_545+6insCTTAATCT
NM_000369.2:c.545+5_545+6insCTTAATCT , LRG_523t1:c.545+5_545+6insCTTAATCT NP_000360.2:n.545+5_545+6insCTTAATCT
NM_001018036.2:c.545+5_545+6insCTTAATCT NP_001018046.1:n.545+5_545+6insCTTAATCT
NM_001142626.2:c.545+5_545+6insCTTAATCT NP_001136098.1:n.545+5_545+6insCTTAATCT
XM_005268037.3:c.545+5_545+6insCTTAATCT XP_005268094.1:n.545+5_545+6insCTTAATCT
XM_005268039.1:c.545+5_545+6insCTTAATCT XP_005268096.1:n.545+5_545+6insCTTAATCT
XM_006720245.1:c.545+5_545+6insCTTAATCT XP_006720308.1:n.545+5_545+6insCTTAATCT
XM_011537119.1:c.266+5_266+6insCTTAATCT XP_011535421.1:n.266+5_266+6insCTTAATCT
XR_245790.3:n.2480+968_2480+969insAGATTAAG
XR_944075.1:n.1260-207_1260-206insAGATTAAG
XR_944076.1:n.1255+968_1255+969insAGATTAAG
XR_944077.1:n.1259+968_1259+969insAGATTAAG
XR_944078.1:n.1259+968_1259+969insAGATTAAG
XM_005268037.4:c.545+5_545+6insCTTAATCT XP_005268094.1:n.545+5_545+6insCTTAATCT
XM_011537119.2:c.266+5_266+6insCTTAATCT XP_011535421.1:n.266+5_266+6insCTTAATCT
XR_001751018.2:n.700-207_700-206insAGATTAAG
XR_001751019.2:n.699+968_699+969insAGATTAAG
XR_001751020.2:n.699+968_699+969insAGATTAAG
XR_001751021.1:n.3148-207_3148-206insAGATTAAG
XR_001751022.1:n.3147+968_3147+969insAGATTAAG
XR_001751023.1:n.3280+968_3280+969insAGATTAAG
XR_001751024.2:n.700-207_700-206insAGATTAAG
XR_944075.3:n.1324-207_1324-206insAGATTAAG
NM_000369.4:c.545+5_545+6insCTTAATCT NP_000360.2:n.545+5_545+6insCTTAATCT
NM_001018036.3:c.545+5_545+6insCTTAATCT NP_001018046.1:n.545+5_545+6insCTTAATCT
NM_001142626.3:c.545+5_545+6insCTTAATCT NP_001136098.1:n.545+5_545+6insCTTAATCT
NM_000369.5:c.545+5_545+6insCTTAATCT MANE Select NP_000360.2:n.545+5_545+6insCTTAATCT