Canonical Allele Identifier: CA2695219603

Gene: TSHR

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143869_81143885del , CM000676.2:g.81143869_81143885del	GRCh38
NC_000014.8:g.81610213_81610229del , CM000676.1:g.81610213_81610229del	GRCh37
NC_000014.7:g.80679966_80679982del	NCBI36
NG_009206.1:g.193345_193361del , LRG_523:g.193345_193361del

Transcript Alleles

HGVS	Amino-acid change
ENST00000298171.7:c.1811_1827del MANE Select	ENSP00000298171.2:p.Ile604LysfsTer?
ENST00000637447.1:c.714_730del
ENST00000298171.6:c.1811_1827del	ENSP00000298171.2:p.Ile604LysfsTer?
ENST00000541158.6:c.1811_1827del	ENSP00000441235.2:p.Ile604LysfsTer?
NM_000369.2:c.1811_1827del , LRG_523t1:c.1811_1827del	NP_000360.2:p.Ile604LysfsTer?
XM_005268037.3:c.1811_1827del	XP_005268094.1:p.Ile604LysfsTer?
XM_011537119.1:c.1532_1548del	XP_011535421.1:p.Ile511LysfsTer?
XR_245790.3:n.2086+21310_2086+21326del
XR_429385.2:n.853+21310_853+21326del
XR_429386.2:n.854+21310_854+21326del
XR_944075.1:n.865+21310_865+21326del
XR_944076.1:n.861+21310_861+21326del
XR_944077.1:n.865+21310_865+21326del
XR_944078.1:n.865+21310_865+21326del
XR_944079.1:n.855+21310_855+21326del
XM_005268037.4:c.1811_1827del	XP_005268094.1:p.Ile604LysfsTer?
XM_011537119.2:c.1532_1548del	XP_011535421.1:p.Ile511LysfsTer?
XR_001751021.1:n.2753+21310_2753+21326del
XR_001751022.1:n.2753+21310_2753+21326del
XR_001751023.1:n.2753+21310_2753+21326del
XR_944075.3:n.929+21310_929+21326del
NM_000369.4:c.1811_1827del	NP_000360.2:p.Ile604LysfsTer?
NM_000369.5:c.1811_1827del MANE Select	NP_000360.2:p.Ile604LysfsTer?