Canonical Allele Identifier: CA7294380

Gene: TSHR

Linked Data

• dbSNP Id: rs747136877
• ExAC: 14:81609443 TAAC / T
• gnomAD v2: 14-81609443-TAAC-T
• gnomAD v4: 14-81143099-TAAC-T
• MyVariant Identifiers: chr14:g.81609444_81609446del (hg19) ; chr14:g.81143100_81143102del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143103_81143105del , CM000676.2:g.81143103_81143105del	GRCh38
NC_000014.8:g.81609447_81609449del , CM000676.1:g.81609447_81609449del	GRCh37
NC_000014.7:g.80679200_80679202del	NCBI36
NG_009206.1:g.192579_192581del , LRG_523:g.192579_192581del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.1045_1047del MANE Select	ENSP00000298171.2:p.Asn349del
ENST00000636454.1:n.963_965del
ENST00000298171.6:c.1045_1047del	ENSP00000298171.2:p.Asn349del
ENST00000541158.6:c.1045_1047del	ENSP00000441235.2:p.Asn349del
NM_000369.2:c.1045_1047del , LRG_523t1:c.1045_1047del	NP_000360.2:p.Asn349del
XM_005268037.3:c.1045_1047del	XP_005268094.1:p.Asn349del
XM_011537119.1:c.766_768del	XP_011535421.1:p.Asn256del
XR_245790.3:n.2086+22091_2086+22093del
XR_429385.2:n.853+22091_853+22093del
XR_429386.2:n.854+22091_854+22093del
XR_944075.1:n.865+22091_865+22093del
XR_944076.1:n.861+22091_861+22093del
XR_944077.1:n.865+22091_865+22093del
XR_944078.1:n.865+22091_865+22093del
XR_944079.1:n.855+22091_855+22093del
XM_005268037.4:c.1045_1047del	XP_005268094.1:p.Asn349del
XM_011537119.2:c.766_768del	XP_011535421.1:p.Asn256del
XR_001751021.1:n.2753+22091_2753+22093del
XR_001751022.1:n.2753+22091_2753+22093del
XR_001751023.1:n.2753+22091_2753+22093del
XR_944075.3:n.929+22091_929+22093del
NM_000369.4:c.1045_1047del	NP_000360.2:p.Asn349del
NM_000369.5:c.1045_1047del MANE Select	NP_000360.2:p.Asn349del