Canonical Allele Identifier: CA2149670724

Gene: DIO2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203041_80203042delinsAG , CM000676.2:g.80203041_80203042delinsAG	GRCh38
NC_000014.8:g.80669384_80669385delinsAG , CM000676.1:g.80669384_80669385delinsAG	GRCh37
NC_000014.7:g.79739137_79739138delinsAG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000438257.9:c.469_470delinsCT MANE Select	ENSP00000405854.5:p.Leu157=
ENST00000555750.2:c.*307_*308delinsCT	ENSP00000450980.2:n.*307_*308delinsCT
ENST00000422005.7:c.*270_*271delinsCT	ENSP00000411438.4:n.*270_*271delinsCT
ENST00000438257.8:c.469_470delinsCT	ENSP00000405854.4:p.Leu157=
ENST00000555750.1:c.577_578delinsCT	ENSP00000450980.1:p.Leu193=
ENST00000555844.1:c.553_554delinsCT
ENST00000556811.5:c.445_446delinsCT
ENST00000557010.5:c.469_470delinsCT	ENSP00000451419.1:p.Leu157=
ENST00000557125.1:c.93_94delinsCT	ENSP00000450547.1:p.Ser31=
NM_000793.5:c.469_470delinsCT	NP_000784.2:p.Leu157=
NM_001007023.3:c.577_578delinsCT	NP_001007024.1:p.Leu193=
NM_001242502.1:c.*270_*271delinsCT	NP_001229431.1:n.*270_*271delinsCT
NM_001242503.1:c.*270_*271delinsCT	NP_001229432.1:n.*270_*271delinsCT
NM_013989.4:c.469_470delinsCT	NP_054644.1:p.Leu157=
NM_000793.6:c.469_470delinsCT	NP_000784.3:p.Leu157=
NM_001324462.2:c.469_470delinsCT	NP_001311391.2:p.Leu157=
NM_001366496.1:c.469_470delinsCT	NP_001353425.1:p.Leu157=
NM_013989.5:c.469_470delinsCT MANE Select	NP_054644.1:p.Leu157=
NR_158990.1:n.609_610delinsCT
NR_158991.1:n.743_744delinsCT