Canonical Allele Identifier: CA709049917

Gene: TSHR

Linked Data

• dbSNP Id: rs1336099269
• MyVariant Identifiers: chr14:g.81559013_81559017del (hg19) ; chr14:g.81092669_81092673del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81092669_81092673del , CM000676.2:g.81092669_81092673del	GRCh38
NC_000014.8:g.81559013_81559017del , CM000676.1:g.81559013_81559017del	GRCh37
NC_000014.7:g.80628766_80628770del	NCBI36
NG_009206.1:g.142145_142149del , LRG_523:g.142145_142149del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.545+61_545+65del MANE Select	ENSP00000298171.2:n.545+61_545+65del
ENST00000636454.1:n.463+61_463+65del
ENST00000298171.6:c.545+61_545+65del	ENSP00000298171.2:n.545+61_545+65del
ENST00000342443.10:c.545+61_545+65del	ENSP00000340113.6:n.545+61_545+65del
ENST00000541158.6:c.545+61_545+65del	ENSP00000441235.2:n.545+61_545+65del
ENST00000554263.5:c.545+61_545+65del	ENSP00000451202.1:n.545+61_545+65del
ENST00000554435.1:c.545+61_545+65del	ENSP00000450549.1:n.545+61_545+65del
NM_000369.2:c.545+61_545+65del , LRG_523t1:c.545+61_545+65del	NP_000360.2:n.545+61_545+65del
NM_001018036.2:c.545+61_545+65del	NP_001018046.1:n.545+61_545+65del
NM_001142626.2:c.545+61_545+65del	NP_001136098.1:n.545+61_545+65del
XM_005268037.3:c.545+61_545+65del	XP_005268094.1:n.545+61_545+65del
XM_005268039.1:c.545+61_545+65del	XP_005268096.1:n.545+61_545+65del
XM_006720245.1:c.545+61_545+65del	XP_006720308.1:n.545+61_545+65del
XM_011537119.1:c.266+61_266+65del	XP_011535421.1:n.266+61_266+65del
XR_245790.3:n.2480+909_2480+913del
XR_944075.1:n.1260-266_1260-262del
XR_944076.1:n.1255+909_1255+913del
XR_944077.1:n.1259+909_1259+913del
XR_944078.1:n.1259+909_1259+913del
XM_005268037.4:c.545+61_545+65del	XP_005268094.1:n.545+61_545+65del
XM_011537119.2:c.266+61_266+65del	XP_011535421.1:n.266+61_266+65del
XR_001751018.2:n.700-266_700-262del
XR_001751019.2:n.699+909_699+913del
XR_001751020.2:n.699+909_699+913del
XR_001751021.1:n.3148-266_3148-262del
XR_001751022.1:n.3147+909_3147+913del
XR_001751023.1:n.3280+909_3280+913del
XR_001751024.2:n.700-266_700-262del
XR_944075.3:n.1324-266_1324-262del
NM_000369.4:c.545+61_545+65del	NP_000360.2:n.545+61_545+65del
NM_001018036.3:c.545+61_545+65del	NP_001018046.1:n.545+61_545+65del
NM_001142626.3:c.545+61_545+65del	NP_001136098.1:n.545+61_545+65del
NM_000369.5:c.545+61_545+65del MANE Select	NP_000360.2:n.545+61_545+65del