Canonical Allele Identifier: CA965204507

Gene: TSHR

Linked Data

• dbSNP Id: rs1888801655
• gnomAD v3: 14-81092307-CACTT-C
• gnomAD v4: 14-81092307-CACTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81092310_81092313del , CM000676.2:g.81092310_81092313del	GRCh38
NC_000014.8:g.81558654_81558657del , CM000676.1:g.81558654_81558657del	GRCh37
NC_000014.7:g.80628407_80628410del	NCBI36
NG_009206.1:g.141786_141789del , LRG_523:g.141786_141789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.468-221_468-218del MANE Select	ENSP00000298171.2:n.468-221_468-218del
ENST00000636454.1:n.386-221_386-218del
ENST00000298171.6:c.468-221_468-218del	ENSP00000298171.2:n.468-221_468-218del
ENST00000342443.10:c.468-221_468-218del	ENSP00000340113.6:n.468-221_468-218del
ENST00000541158.6:c.468-221_468-218del	ENSP00000441235.2:n.468-221_468-218del
ENST00000554263.5:c.468-221_468-218del	ENSP00000451202.1:n.468-221_468-218del
ENST00000554435.1:c.468-221_468-218del	ENSP00000450549.1:n.468-221_468-218del
NM_000369.2:c.468-221_468-218del , LRG_523t1:c.468-221_468-218del	NP_000360.2:n.468-221_468-218del
NM_001018036.2:c.468-221_468-218del	NP_001018046.1:n.468-221_468-218del
NM_001142626.2:c.468-221_468-218del	NP_001136098.1:n.468-221_468-218del
XM_005268037.3:c.468-221_468-218del	XP_005268094.1:n.468-221_468-218del
XM_005268039.1:c.468-221_468-218del	XP_005268096.1:n.468-221_468-218del
XM_006720245.1:c.468-221_468-218del	XP_006720308.1:n.468-221_468-218del
XM_011537119.1:c.189-221_189-218del	XP_011535421.1:n.189-221_189-218del
XR_245790.3:n.2480+1271_2480+1274del
XR_944075.1:n.1353+3_1353+6del
XR_944076.1:n.1255+1271_1255+1274del
XR_944077.1:n.1259+1271_1259+1274del
XR_944078.1:n.1259+1271_1259+1274del
XM_005268037.4:c.468-221_468-218del	XP_005268094.1:n.468-221_468-218del
XM_011537119.2:c.189-221_189-218del	XP_011535421.1:n.189-221_189-218del
XR_001751018.2:n.793+3_793+6del
XR_001751019.2:n.699+1271_699+1274del
XR_001751020.2:n.699+1271_699+1274del
XR_001751021.1:n.3241+3_3241+6del
XR_001751022.1:n.3147+1271_3147+1274del
XR_001751023.1:n.3280+1271_3280+1274del
XR_001751024.2:n.793+3_793+6del
XR_944075.3:n.1417+3_1417+6del
NM_000369.4:c.468-221_468-218del	NP_000360.2:n.468-221_468-218del
NM_001018036.3:c.468-221_468-218del	NP_001018046.1:n.468-221_468-218del
NM_001142626.3:c.468-221_468-218del	NP_001136098.1:n.468-221_468-218del
NM_000369.5:c.468-221_468-218del MANE Select	NP_000360.2:n.468-221_468-218del