Canonical Allele Identifier: CA615257240

Gene: TSHR

Linked Data

• gnomAD v2: 14-81558644-A-AAGCTCTCACTTACCCCACATTTGGGCTCCAGGTGCATGTCATCTAGGAC
• gnomAD v3: 14-81092300-A-AAGCTCTCACTTACCCCACATTTGGGCTCCAGGTGCATGTCATCTAGGAC
• gnomAD v4: 14-81092300-A-AAGCTCTCACTTACCCCACATTTGGGCTCCAGGTGCATGTCATCTAGGAC
• MyVariant Identifiers: chr14:g.81558644_81558645insAGCTCTCACTTACCCCACATTTGGGCTCCAGGTGCATGTCATCTAGGAC (hg19) ; chr14:g.81092300_81092301insAGCTCTCACTTACCCCACATTTGGGCTCCAGGTGCATGTCATCTAGGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81092310_81092358dup , CM000676.2:g.81092310_81092358dup	GRCh38
NC_000014.8:g.81558654_81558702dup , CM000676.1:g.81558654_81558702dup	GRCh37
NC_000014.7:g.80628407_80628455dup	NCBI36
NG_009206.1:g.141786_141834dup , LRG_523:g.141786_141834dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.468-221_468-173dup MANE Select	ENSP00000298171.2:n.468-221_468-173dup
ENST00000636454.1:n.386-221_386-173dup
ENST00000298171.6:c.468-221_468-173dup	ENSP00000298171.2:n.468-221_468-173dup
ENST00000342443.10:c.468-221_468-173dup	ENSP00000340113.6:n.468-221_468-173dup
ENST00000541158.6:c.468-221_468-173dup	ENSP00000441235.2:n.468-221_468-173dup
ENST00000554263.5:c.468-221_468-173dup	ENSP00000451202.1:n.468-221_468-173dup
ENST00000554435.1:c.468-221_468-173dup	ENSP00000450549.1:n.468-221_468-173dup
NM_000369.2:c.468-221_468-173dup , LRG_523t1:c.468-221_468-173dup	NP_000360.2:n.468-221_468-173dup
NM_001018036.2:c.468-221_468-173dup	NP_001018046.1:n.468-221_468-173dup
NM_001142626.2:c.468-221_468-173dup	NP_001136098.1:n.468-221_468-173dup
XM_005268037.3:c.468-221_468-173dup	XP_005268094.1:n.468-221_468-173dup
XM_005268039.1:c.468-221_468-173dup	XP_005268096.1:n.468-221_468-173dup
XM_006720245.1:c.468-221_468-173dup	XP_006720308.1:n.468-221_468-173dup
XM_011537119.1:c.189-221_189-173dup	XP_011535421.1:n.189-221_189-173dup
XR_245790.3:n.2480+1233_2480+1281dup
XR_944075.1:n.1318_1353+13dup
XR_944076.1:n.1255+1233_1255+1281dup
XR_944077.1:n.1259+1233_1259+1281dup
XR_944078.1:n.1259+1233_1259+1281dup
XM_005268037.4:c.468-221_468-173dup	XP_005268094.1:n.468-221_468-173dup
XM_011537119.2:c.189-221_189-173dup	XP_011535421.1:n.189-221_189-173dup
XR_001751018.2:n.758_793+13dup
XR_001751019.2:n.699+1233_699+1281dup
XR_001751020.2:n.699+1233_699+1281dup
XR_001751021.1:n.3206_3241+13dup
XR_001751022.1:n.3147+1233_3147+1281dup
XR_001751023.1:n.3280+1233_3280+1281dup
XR_001751024.2:n.758_793+13dup
XR_944075.3:n.1382_1417+13dup
NM_000369.4:c.468-221_468-173dup	NP_000360.2:n.468-221_468-173dup
NM_001018036.3:c.468-221_468-173dup	NP_001018046.1:n.468-221_468-173dup
NM_001142626.3:c.468-221_468-173dup	NP_001136098.1:n.468-221_468-173dup
NM_000369.5:c.468-221_468-173dup MANE Select	NP_000360.2:n.468-221_468-173dup