Canonical Allele Identifier: CA2625933665

Gene: TSHR

Linked Data

• gnomAD v4: 14-81142940-A-AAAGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81142941_81142942insAGGCA , CM000676.2:g.81142941_81142942insAGGCA	GRCh38
NC_000014.8:g.81609285_81609286insAGGCA , CM000676.1:g.81609285_81609286insAGGCA	GRCh37
NC_000014.7:g.80679038_80679039insAGGCA	NCBI36
NG_009206.1:g.192417_192418insAGGCA , LRG_523:g.192417_192418insAGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.883_884insAGGCA MANE Select	ENSP00000298171.2:p.Ile295LysfsTer7
ENST00000636454.1:n.801_802insAGGCA
ENST00000298171.6:c.883_884insAGGCA	ENSP00000298171.2:p.Ile295LysfsTer7
ENST00000541158.6:c.883_884insAGGCA	ENSP00000441235.2:p.Ile295LysfsTer7
NM_000369.2:c.883_884insAGGCA , LRG_523t1:c.883_884insAGGCA	NP_000360.2:p.Ile295LysfsTer7
XM_005268037.3:c.883_884insAGGCA	XP_005268094.1:p.Ile295LysfsTer7
XM_011537119.1:c.604_605insAGGCA	XP_011535421.1:p.Ile202LysfsTer7
XR_245790.3:n.2086+22252_2086+22253insGCCTT
XR_429385.2:n.853+22252_853+22253insGCCTT
XR_429386.2:n.854+22252_854+22253insGCCTT
XR_944075.1:n.865+22252_865+22253insGCCTT
XR_944076.1:n.861+22252_861+22253insGCCTT
XR_944077.1:n.865+22252_865+22253insGCCTT
XR_944078.1:n.865+22252_865+22253insGCCTT
XR_944079.1:n.855+22252_855+22253insGCCTT
XM_005268037.4:c.883_884insAGGCA	XP_005268094.1:p.Ile295LysfsTer7
XM_011537119.2:c.604_605insAGGCA	XP_011535421.1:p.Ile202LysfsTer7
XR_001751021.1:n.2753+22252_2753+22253insGCCTT
XR_001751022.1:n.2753+22252_2753+22253insGCCTT
XR_001751023.1:n.2753+22252_2753+22253insGCCTT
XR_944075.3:n.929+22252_929+22253insGCCTT
NM_000369.4:c.883_884insAGGCA	NP_000360.2:p.Ile295LysfsTer7
NM_000369.5:c.883_884insAGGCA MANE Select	NP_000360.2:p.Ile295LysfsTer7