Canonical Allele Identifier: CA2580611475
Gene: TSHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1048762
ClinVar RCV Id: RCV001353349
dbSNP Id: rs2101008674
gnomAD v4: 1-115033466-AGT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115033470_115033471del , CM000663.2:g.115033470_115033471del GRCh38
NC_000001.10:g.115576091_115576092del , CM000663.1:g.115576091_115576092del GRCh37
NC_000001.9:g.115377614_115377615del NCBI36
NG_015891.1:g.8677_8678del

Transcript Alleles

HGVS Amino-acid change
ENST00000256592.3:c.108_109del MANE Select ENSP00000256592.1:p.Ala37LeufsTer?
ENST00000256592.2:c.108_109del ENSP00000256592.1:p.Ala37LeufsTer?
ENST00000369517.1:c.108_109del ENSP00000358530.1:p.Ala37LeufsTer?
NM_000549.4:c.108_109del NP_000540.2:p.Ala37LeufsTer?
XM_011542065.1:c.108_109del XP_011540367.1:p.Ala37LeufsTer?
XM_011542065.2:c.108_109del XP_011540367.1:p.Ala37LeufsTer?
NM_000549.5:c.108_109del MANE Select NP_000540.2:p.Ala37LeufsTer?
Search 100 bp 5'
Search 100 bp 3'