Canonical Allele Identifier: CA2550285941
Gene: TSHB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115033571_115033576del , CM000663.2:g.115033571_115033576del GRCh38
NC_000001.10:g.115576192_115576197del , CM000663.1:g.115576192_115576197del GRCh37
NC_000001.9:g.115377715_115377720del NCBI36
NG_015891.1:g.8778_8783del

Transcript Alleles

HGVS Amino-acid Change
ENST00000256592.3:c.162+47_162+52del MANE Select ENSP00000256592.1:n.162+47_162+52del
ENST00000256592.2:c.162+47_162+52del ENSP00000256592.1:n.162+47_162+52del
ENST00000369517.1:c.162+47_162+52del ENSP00000358530.1:n.162+47_162+52del
NM_000549.4:c.162+47_162+52del NP_000540.2:n.162+47_162+52del
XM_011542065.1:c.162+47_162+52del XP_011540367.1:n.162+47_162+52del
XM_011542065.2:c.162+47_162+52del XP_011540367.1:n.162+47_162+52del
NM_000549.5:c.162+47_162+52del MANE Select NP_000540.2:n.162+47_162+52del