Canonical Allele Identifier: CA2647270345

Gene: TSHB

Linked Data

• gnomAD v4: 1-115033390-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115033395del , CM000663.2:g.115033395del	GRCh38
NC_000001.10:g.115576016del , CM000663.1:g.115576016del	GRCh37
NC_000001.9:g.115377539del	NCBI36
NG_015891.1:g.8602del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256592.3:c.33del MANE Select	ENSP00000256592.1:p.Phe11LeufsTer30
ENST00000256592.2:c.33del	ENSP00000256592.1:p.Phe11LeufsTer30
ENST00000369517.1:c.33del	ENSP00000358530.1:p.Phe11LeufsTer30
NM_000549.4:c.33del	NP_000540.2:p.Phe11LeufsTer30
XM_011542065.1:c.33del	XP_011540367.1:p.Phe11LeufsTer30
XM_011542065.2:c.33del	XP_011540367.1:p.Phe11LeufsTer30
NM_000549.5:c.33del MANE Select	NP_000540.2:p.Phe11LeufsTer30