Canonical Allele Identifier: CA7294169

Gene: TSHR

Linked Data

• dbSNP Id: rs775675381
• ExAC: 14:81558934 G / GCAAT
• gnomAD v2: 14-81558934-G-GCAAT
• gnomAD v4: 14-81092590-G-GCAAT
• MyVariant Identifiers: chr14:g.81558934_81558935insCAAT (hg19) ; chr14:g.81092590_81092591insCAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81092591_81092594dup , CM000676.2:g.81092591_81092594dup	GRCh38
NC_000014.8:g.81558935_81558938dup , CM000676.1:g.81558935_81558938dup	GRCh37
NC_000014.7:g.80628688_80628691dup	NCBI36
NG_009206.1:g.142067_142070dup , LRG_523:g.142067_142070dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.528_531dup MANE Select	ENSP00000298171.2:p.Glu178GlnfsTer2
ENST00000636454.1:n.446_449dup
ENST00000298171.6:c.528_531dup	ENSP00000298171.2:p.Glu178GlnfsTer2
ENST00000342443.10:c.528_531dup	ENSP00000340113.6:p.Glu178GlnfsTer2
ENST00000541158.6:c.528_531dup	ENSP00000441235.2:p.Glu178GlnfsTer2
ENST00000554263.5:c.528_531dup	ENSP00000451202.1:p.Glu178GlnfsTer2
ENST00000554435.1:c.528_531dup	ENSP00000450549.1:p.Glu178GlnfsTer2
NM_000369.2:c.528_531dup , LRG_523t1:c.528_531dup	NP_000360.2:p.Glu178GlnfsTer2
NM_001018036.2:c.528_531dup	NP_001018046.1:p.Glu178GlnfsTer2
NM_001142626.2:c.528_531dup	NP_001136098.1:p.Glu178GlnfsTer2
XM_005268037.3:c.528_531dup	XP_005268094.1:p.Glu178GlnfsTer2
XM_005268039.1:c.528_531dup	XP_005268096.1:p.Glu178GlnfsTer2
XM_006720245.1:c.528_531dup	XP_006720308.1:p.Glu178GlnfsTer2
XM_011537119.1:c.249_252dup	XP_011535421.1:p.Glu85GlnfsTer2
XR_245790.3:n.2480+988_2480+991dup
XR_944075.1:n.1260-187_1260-184dup
XR_944076.1:n.1255+988_1255+991dup
XR_944077.1:n.1259+988_1259+991dup
XR_944078.1:n.1259+988_1259+991dup
XM_005268037.4:c.528_531dup	XP_005268094.1:p.Glu178GlnfsTer2
XM_011537119.2:c.249_252dup	XP_011535421.1:p.Glu85GlnfsTer2
XR_001751018.2:n.700-187_700-184dup
XR_001751019.2:n.699+988_699+991dup
XR_001751020.2:n.699+988_699+991dup
XR_001751021.1:n.3148-187_3148-184dup
XR_001751022.1:n.3147+988_3147+991dup
XR_001751023.1:n.3280+988_3280+991dup
XR_001751024.2:n.700-187_700-184dup
XR_944075.3:n.1324-187_1324-184dup
NM_000369.4:c.528_531dup	NP_000360.2:p.Glu178GlnfsTer2
NM_001018036.3:c.528_531dup	NP_001018046.1:p.Glu178GlnfsTer2
NM_001142626.3:c.528_531dup	NP_001136098.1:p.Glu178GlnfsTer2
NM_000369.5:c.528_531dup MANE Select	NP_000360.2:p.Glu178GlnfsTer2