Canonical Allele Identifier: CA709035886

Gene: TSHR

Linked Data

• dbSNP Id: rs1254345787
• gnomAD v4: 14-81068213-TACTA-T
• MyVariant Identifiers: chr14:g.81534558_81534561del (hg19) ; chr14:g.81068214_81068217del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81068217_81068220del , CM000676.2:g.81068217_81068220del	GRCh38
NC_000014.8:g.81534561_81534564del , CM000676.1:g.81534561_81534564del	GRCh37
NC_000014.7:g.80604314_80604317del	NCBI36
NG_009206.1:g.117693_117696del , LRG_523:g.117693_117696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.243-37_243-34del MANE Select	ENSP00000298171.2:n.243-37_243-34del
ENST00000298171.6:c.243-37_243-34del	ENSP00000298171.2:n.243-37_243-34del
ENST00000342443.10:c.243-37_243-34del	ENSP00000340113.6:n.243-37_243-34del
ENST00000541158.6:c.243-37_243-34del	ENSP00000441235.2:n.243-37_243-34del
ENST00000553763.1:n.343-37_343-34del
ENST00000554263.5:c.243-37_243-34del	ENSP00000451202.1:n.243-37_243-34del
ENST00000554435.1:c.243-37_243-34del	ENSP00000450549.1:n.243-37_243-34del
ENST00000555326.5:c.243-37_243-34del	ENSP00000451092.1:n.243-37_243-34del
NM_000369.2:c.243-37_243-34del , LRG_523t1:c.243-37_243-34del	NP_000360.2:n.243-37_243-34del
NM_001018036.2:c.243-37_243-34del	NP_001018046.1:n.243-37_243-34del
NM_001142626.2:c.243-37_243-34del	NP_001136098.1:n.243-37_243-34del
XM_005268037.3:c.243-37_243-34del	XP_005268094.1:n.243-37_243-34del
XM_005268039.1:c.243-37_243-34del	XP_005268096.1:n.243-37_243-34del
XM_006720245.1:c.243-37_243-34del	XP_006720308.1:n.243-37_243-34del
XM_011537119.1:c.-86-37_-86-34del	XP_011535421.1:n.-86-37_-86-34del
XR_245790.3:n.3676-14401_3676-14398del
XR_944075.1:n.2549-14401_2549-14398del
XR_944076.1:n.1442-14401_1442-14398del
XR_944077.1:n.2455-14401_2455-14398del
XR_944078.1:n.2455-14401_2455-14398del
XM_005268037.4:c.243-37_243-34del	XP_005268094.1:n.243-37_243-34del
XM_011537119.2:c.-86-37_-86-34del	XP_011535421.1:n.-86-37_-86-34del
XR_001751018.2:n.1989-14401_1989-14398del
XR_001751019.2:n.1895-14401_1895-14398del
XR_001751020.2:n.886-14401_886-14398del
XR_001751021.1:n.4437-14401_4437-14398del
XR_001751022.1:n.3334-14401_3334-14398del
XR_001751023.1:n.4476-14401_4476-14398del
XR_001751024.2:n.1989-14401_1989-14398del
XR_944075.3:n.2613-14401_2613-14398del
NM_000369.4:c.243-37_243-34del	NP_000360.2:n.243-37_243-34del
NM_001018036.3:c.243-37_243-34del	NP_001018046.1:n.243-37_243-34del
NM_001142626.3:c.243-37_243-34del	NP_001136098.1:n.243-37_243-34del
NM_000369.5:c.243-37_243-34del MANE Select	NP_000360.2:n.243-37_243-34del