Canonical Allele Identifier: CA2554962826
Gene: TSHB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115033572_115033573del , CM000663.2:g.115033572_115033573del GRCh38
NC_000001.10:g.115576193_115576194del , CM000663.1:g.115576193_115576194del GRCh37
NC_000001.9:g.115377716_115377717del NCBI36
NG_015891.1:g.8779_8780del

Transcript Alleles

HGVS Amino-acid Change
ENST00000256592.3:c.162+48_162+49del MANE Select ENSP00000256592.1:n.162+48_162+49del
ENST00000256592.2:c.162+48_162+49del ENSP00000256592.1:n.162+48_162+49del
ENST00000369517.1:c.162+48_162+49del ENSP00000358530.1:n.162+48_162+49del
NM_000549.4:c.162+48_162+49del NP_000540.2:n.162+48_162+49del
XM_011542065.1:c.162+48_162+49del XP_011540367.1:n.162+48_162+49del
XM_011542065.2:c.162+48_162+49del XP_011540367.1:n.162+48_162+49del
NM_000549.5:c.162+48_162+49del MANE Select NP_000540.2:n.162+48_162+49del