Canonical Allele Identifier: CA2802333498

Gene: TSHR

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144106_81144107insCCAACCAAACACACCCAACACA , CM000676.2:g.81144106_81144107insCCAACCAAACACACCCAACACA	GRCh38
NC_000014.8:g.81610450_81610451insCCAACCAAACACACCCAACACA , CM000676.1:g.81610450_81610451insCCAACCAAACACACCCAACACA	GRCh37
NC_000014.7:g.80680203_80680204insCCAACCAAACACACCCAACACA	NCBI36
NG_009206.1:g.193582_193583insCCAACCAAACACACCCAACACA , LRG_523:g.193582_193583insCCAACCAAACACACCCAACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.2048_2049insCCAACCAAACACACCCAACACA MANE Select	ENSP00000298171.2:p.Lys683AsnfsTer25
ENST00000637447.1:c.951_952insCCAACCAAACACACCCAACACA
ENST00000298171.6:c.2048_2049insCCAACCAAACACACCCAACACA	ENSP00000298171.2:p.Lys683AsnfsTer25
ENST00000541158.6:c.2048_2049insCCAACCAAACACACCCAACACA	ENSP00000441235.2:p.Lys683AsnfsTer25
NM_000369.2:c.2048_2049insCCAACCAAACACACCCAACACA , LRG_523t1:c.2048_2049insCCAACCAAACACACCCAACACA	NP_000360.2:p.Lys683AsnfsTer25
XM_005268037.3:c.2048_2049insCCAACCAAACACACCCAACACA	XP_005268094.1:p.Lys683AsnfsTer25
XM_011537119.1:c.1769_1770insCCAACCAAACACACCCAACACA	XP_011535421.1:p.Lys590AsnfsTer25
XR_245790.3:n.2086+21087_2086+21088insGTGTTGGGTGTGTTTGGTTGGT
XR_429385.2:n.853+21087_853+21088insGTGTTGGGTGTGTTTGGTTGGT
XR_429386.2:n.854+21087_854+21088insGTGTTGGGTGTGTTTGGTTGGT
XR_944075.1:n.865+21087_865+21088insGTGTTGGGTGTGTTTGGTTGGT
XR_944076.1:n.861+21087_861+21088insGTGTTGGGTGTGTTTGGTTGGT
XR_944077.1:n.865+21087_865+21088insGTGTTGGGTGTGTTTGGTTGGT
XR_944078.1:n.865+21087_865+21088insGTGTTGGGTGTGTTTGGTTGGT
XR_944079.1:n.855+21087_855+21088insGTGTTGGGTGTGTTTGGTTGGT
XM_005268037.4:c.2048_2049insCCAACCAAACACACCCAACACA	XP_005268094.1:p.Lys683AsnfsTer25
XM_011537119.2:c.1769_1770insCCAACCAAACACACCCAACACA	XP_011535421.1:p.Lys590AsnfsTer25
XR_001751021.1:n.2753+21087_2753+21088insGTGTTGGGTGTGTTTGGTTGGT
XR_001751022.1:n.2753+21087_2753+21088insGTGTTGGGTGTGTTTGGTTGGT
XR_001751023.1:n.2753+21087_2753+21088insGTGTTGGGTGTGTTTGGTTGGT
XR_944075.3:n.929+21087_929+21088insGTGTTGGGTGTGTTTGGTTGGT
NM_000369.4:c.2048_2049insCCAACCAAACACACCCAACACA	NP_000360.2:p.Lys683AsnfsTer25
NM_000369.5:c.2048_2049insCCAACCAAACACACCCAACACA MANE Select	NP_000360.2:p.Lys683AsnfsTer25