Canonical Allele Identifier: CA2625915518

Gene: DIO2

Linked Data

• gnomAD v4: 14-80203264-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203269del , CM000676.2:g.80203269del	GRCh38
NC_000014.8:g.80669612del , CM000676.1:g.80669612del	GRCh37
NC_000014.7:g.79739365del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.246del MANE Select	ENSP00000405854.5:p.Asn83IlefsTer24
ENST00000555750.2:c.*84del	ENSP00000450980.2:n.*84del
ENST00000422005.7:c.*47del	ENSP00000411438.4:n.*47del
ENST00000438257.8:c.246del	ENSP00000405854.4:p.Asn83IlefsTer24
ENST00000555750.1:c.354del	ENSP00000450980.1:p.Asn119IlefsTer24
ENST00000555844.1:c.330del
ENST00000556811.5:c.222del
ENST00000557010.5:c.246del	ENSP00000451419.1:p.Asn83IlefsTer24
ENST00000557125.1:c.49-179del	ENSP00000450547.1:n.49-179del
NM_000793.5:c.246del	NP_000784.2:p.Asn83IlefsTer24
NM_001007023.3:c.354del	NP_001007024.1:p.Asn119IlefsTer24
NM_001242502.1:c.*47del	NP_001229431.1:n.*47del
NM_001242503.1:c.*47del	NP_001229432.1:n.*47del
NM_013989.4:c.246del	NP_054644.1:p.Asn83IlefsTer24
NM_000793.6:c.246del	NP_000784.3:p.Asn83IlefsTer24
NM_001324462.2:c.246del	NP_001311391.2:p.Asn83IlefsTer24
NM_001366496.1:c.246del	NP_001353425.1:p.Asn83IlefsTer24
NM_013989.5:c.246del MANE Select	NP_054644.1:p.Asn83IlefsTer24
NR_158990.1:n.386del
NR_158991.1:n.520del