Canonical Allele Identifier: CA2625936069

Gene: TSHR

Linked Data

• gnomAD v4: 14-81144605-TAGAAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144606_81144611del , CM000676.2:g.81144606_81144611del	GRCh38
NC_000014.8:g.81610950_81610955del , CM000676.1:g.81610950_81610955del	GRCh37
NC_000014.7:g.80680703_80680708del	NCBI36
NG_009206.1:g.194082_194087del , LRG_523:g.194082_194087del

Transcript Alleles

HGVS	Amino-acid change
ENST00000298171.7:c.*253_*258del MANE Select	ENSP00000298171.2:n.*253_*258del
ENST00000637447.1:c.1451_1456del
ENST00000298171.6:c.*253_*258del	ENSP00000298171.2:n.*253_*258del
ENST00000541158.6:c.*253_*258del	ENSP00000441235.2:n.*253_*258del
NM_000369.2:c.*253_*258del , LRG_523t1:c.*253_*258del	NP_000360.2:n.*253_*258del
XM_005268037.3:c.*253_*258del	XP_005268094.1:n.*253_*258del
XM_011537119.1:c.*253_*258del	XP_011535421.1:n.*253_*258del
XR_245790.3:n.2086+20582_2086+20587del
XR_429385.2:n.853+20582_853+20587del
XR_429386.2:n.854+20582_854+20587del
XR_944075.1:n.865+20582_865+20587del
XR_944076.1:n.861+20582_861+20587del
XR_944077.1:n.865+20582_865+20587del
XR_944078.1:n.865+20582_865+20587del
XR_944079.1:n.855+20582_855+20587del
XM_005268037.4:c.*253_*258del	XP_005268094.1:n.*253_*258del
XM_011537119.2:c.*253_*258del	XP_011535421.1:n.*253_*258del
XR_001751021.1:n.2753+20582_2753+20587del
XR_001751022.1:n.2753+20582_2753+20587del
XR_001751023.1:n.2753+20582_2753+20587del
XR_944075.3:n.929+20582_929+20587del
NM_000369.4:c.*253_*258del	NP_000360.2:n.*253_*258del
NM_000369.5:c.*253_*258del MANE Select	NP_000360.2:n.*253_*258del