Canonical Allele Identifier: CA2625933775

Gene: TSHR

Linked Data

• gnomAD v4: 14-81092665-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81092668_81092669del , CM000676.2:g.81092668_81092669del	GRCh38
NC_000014.8:g.81559012_81559013del , CM000676.1:g.81559012_81559013del	GRCh37
NC_000014.7:g.80628765_80628766del	NCBI36
NG_009206.1:g.142144_142145del , LRG_523:g.142144_142145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.545+60_545+61del MANE Select	ENSP00000298171.2:n.545+60_545+61del
ENST00000636454.1:n.463+60_463+61del
ENST00000298171.6:c.545+60_545+61del	ENSP00000298171.2:n.545+60_545+61del
ENST00000342443.10:c.545+60_545+61del	ENSP00000340113.6:n.545+60_545+61del
ENST00000541158.6:c.545+60_545+61del	ENSP00000441235.2:n.545+60_545+61del
ENST00000554263.5:c.545+60_545+61del	ENSP00000451202.1:n.545+60_545+61del
ENST00000554435.1:c.545+60_545+61del	ENSP00000450549.1:n.545+60_545+61del
NM_000369.2:c.545+60_545+61del , LRG_523t1:c.545+60_545+61del	NP_000360.2:n.545+60_545+61del
NM_001018036.2:c.545+60_545+61del	NP_001018046.1:n.545+60_545+61del
NM_001142626.2:c.545+60_545+61del	NP_001136098.1:n.545+60_545+61del
XM_005268037.3:c.545+60_545+61del	XP_005268094.1:n.545+60_545+61del
XM_005268039.1:c.545+60_545+61del	XP_005268096.1:n.545+60_545+61del
XM_006720245.1:c.545+60_545+61del	XP_006720308.1:n.545+60_545+61del
XM_011537119.1:c.266+60_266+61del	XP_011535421.1:n.266+60_266+61del
XR_245790.3:n.2480+915_2480+916del
XR_944075.1:n.1260-260_1260-259del
XR_944076.1:n.1255+915_1255+916del
XR_944077.1:n.1259+915_1259+916del
XR_944078.1:n.1259+915_1259+916del
XM_005268037.4:c.545+60_545+61del	XP_005268094.1:n.545+60_545+61del
XM_011537119.2:c.266+60_266+61del	XP_011535421.1:n.266+60_266+61del
XR_001751018.2:n.700-260_700-259del
XR_001751019.2:n.699+915_699+916del
XR_001751020.2:n.699+915_699+916del
XR_001751021.1:n.3148-260_3148-259del
XR_001751022.1:n.3147+915_3147+916del
XR_001751023.1:n.3280+915_3280+916del
XR_001751024.2:n.700-260_700-259del
XR_944075.3:n.1324-260_1324-259del
NM_000369.4:c.545+60_545+61del	NP_000360.2:n.545+60_545+61del
NM_001018036.3:c.545+60_545+61del	NP_001018046.1:n.545+60_545+61del
NM_001142626.3:c.545+60_545+61del	NP_001136098.1:n.545+60_545+61del
NM_000369.5:c.545+60_545+61del MANE Select	NP_000360.2:n.545+60_545+61del