Canonical Allele Identifier: CA2647270341

Gene: TSHB

Linked Data

• gnomAD v4: 1-115033376-TTCTGATG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115033379_115033385del , CM000663.2:g.115033379_115033385del	GRCh38
NC_000001.10:g.115576000_115576006del , CM000663.1:g.115576000_115576006del	GRCh37
NC_000001.9:g.115377523_115377529del	NCBI36
NG_015891.1:g.8586_8592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256592.3:c.17_23del MANE Select	ENSP00000256592.1:p.Leu6ProfsTer?
ENST00000256592.2:c.17_23del	ENSP00000256592.1:p.Leu6ProfsTer?
ENST00000369517.1:c.17_23del	ENSP00000358530.1:p.Leu6ProfsTer?
NM_000549.4:c.17_23del	NP_000540.2:p.Leu6ProfsTer?
XM_011542065.1:c.17_23del	XP_011540367.1:p.Leu6ProfsTer?
XM_011542065.2:c.17_23del	XP_011540367.1:p.Leu6ProfsTer?
NM_000549.5:c.17_23del MANE Select	NP_000540.2:p.Leu6ProfsTer?