Canonical Allele Identifier: CA2535863259
Gene: TSHR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81068451_81068453del , CM000676.2:g.81068451_81068453del GRCh38
NC_000014.8:g.81534795_81534797del , CM000676.1:g.81534795_81534797del GRCh37
NC_000014.7:g.80604548_80604550del NCBI36
NG_009206.1:g.117927_117929del , LRG_523:g.117927_117929del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298171.7:c.317+123_317+125del MANE Select ENSP00000298171.2:n.317+123_317+125del
ENST00000298171.6:c.317+123_317+125del ENSP00000298171.2:n.317+123_317+125del
ENST00000342443.10:c.317+123_317+125del ENSP00000340113.6:n.317+123_317+125del
ENST00000541158.6:c.317+123_317+125del ENSP00000441235.2:n.317+123_317+125del
ENST00000553763.1:n.540_542del
ENST00000554263.5:c.317+123_317+125del ENSP00000451202.1:n.317+123_317+125del
ENST00000554435.1:c.317+123_317+125del ENSP00000450549.1:n.317+123_317+125del
ENST00000555326.5:c.317+123_317+125del ENSP00000451092.1:n.317+123_317+125del
NM_000369.2:c.317+123_317+125del , LRG_523t1:c.317+123_317+125del NP_000360.2:n.317+123_317+125del
NM_001018036.2:c.317+123_317+125del NP_001018046.1:n.317+123_317+125del
NM_001142626.2:c.317+123_317+125del NP_001136098.1:n.317+123_317+125del
XM_005268037.3:c.317+123_317+125del XP_005268094.1:n.317+123_317+125del
XM_005268039.1:c.317+123_317+125del XP_005268096.1:n.317+123_317+125del
XM_006720245.1:c.317+123_317+125del XP_006720308.1:n.317+123_317+125del
XM_011537119.1:c.-12+123_-12+125del XP_011535421.1:n.-12+123_-12+125del
XR_245790.3:n.3676-14636_3676-14634del
XR_944075.1:n.2549-14636_2549-14634del
XR_944076.1:n.1442-14636_1442-14634del
XR_944077.1:n.2455-14636_2455-14634del
XR_944078.1:n.2455-14636_2455-14634del
XM_005268037.4:c.317+123_317+125del XP_005268094.1:n.317+123_317+125del
XM_011537119.2:c.-12+123_-12+125del XP_011535421.1:n.-12+123_-12+125del
XR_001751018.2:n.1989-14636_1989-14634del
XR_001751019.2:n.1895-14636_1895-14634del
XR_001751020.2:n.886-14636_886-14634del
XR_001751021.1:n.4437-14636_4437-14634del
XR_001751022.1:n.3334-14636_3334-14634del
XR_001751023.1:n.4476-14636_4476-14634del
XR_001751024.2:n.1989-14636_1989-14634del
XR_944075.3:n.2613-14636_2613-14634del
NM_000369.4:c.317+123_317+125del NP_000360.2:n.317+123_317+125del
NM_001018036.3:c.317+123_317+125del NP_001018046.1:n.317+123_317+125del
NM_001142626.3:c.317+123_317+125del NP_001136098.1:n.317+123_317+125del
NM_000369.5:c.317+123_317+125del MANE Select NP_000360.2:n.317+123_317+125del