Canonical Allele Identifier: CA2575593489

Gene: TSHR

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81142971_81142980del , CM000676.2:g.81142971_81142980del	GRCh38
NC_000014.8:g.81609315_81609324del , CM000676.1:g.81609315_81609324del	GRCh37
NC_000014.7:g.80679068_80679077del	NCBI36
NG_009206.1:g.192447_192456del , LRG_523:g.192447_192456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.913_922del MANE Select	ENSP00000298171.2:p.Ser305AlafsTer8
ENST00000636454.1:n.831_840del
ENST00000298171.6:c.913_922del	ENSP00000298171.2:p.Ser305AlafsTer8
ENST00000541158.6:c.913_922del	ENSP00000441235.2:p.Ser305AlafsTer8
NM_000369.2:c.913_922del , LRG_523t1:c.913_922del	NP_000360.2:p.Ser305AlafsTer8
XM_005268037.3:c.913_922del	XP_005268094.1:p.Ser305AlafsTer8
XM_011537119.1:c.634_643del	XP_011535421.1:p.Ser212AlafsTer8
XR_245790.3:n.2086+22213_2086+22222del
XR_429385.2:n.853+22213_853+22222del
XR_429386.2:n.854+22213_854+22222del
XR_944075.1:n.865+22213_865+22222del
XR_944076.1:n.861+22213_861+22222del
XR_944077.1:n.865+22213_865+22222del
XR_944078.1:n.865+22213_865+22222del
XR_944079.1:n.855+22213_855+22222del
XM_005268037.4:c.913_922del	XP_005268094.1:p.Ser305AlafsTer8
XM_011537119.2:c.634_643del	XP_011535421.1:p.Ser212AlafsTer8
XR_001751021.1:n.2753+22213_2753+22222del
XR_001751022.1:n.2753+22213_2753+22222del
XR_001751023.1:n.2753+22213_2753+22222del
XR_944075.3:n.929+22213_929+22222del
NM_000369.4:c.913_922del	NP_000360.2:p.Ser305AlafsTer8
NM_000369.5:c.913_922del MANE Select	NP_000360.2:p.Ser305AlafsTer8