Canonical Allele Identifier: CA2149671361

Gene: DIO2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203491_80203493delinsTAA , CM000676.2:g.80203491_80203493delinsTAA	GRCh38
NC_000014.8:g.80669834_80669836delinsTAA , CM000676.1:g.80669834_80669836delinsTAA	GRCh37
NC_000014.7:g.79739587_79739589delinsTAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.223-205_223-203delinsTTA MANE Select	ENSP00000405854.5:n.223-205_223-203delinsTTA
ENST00000555750.2:c.*61-205_*61-203delinsTTA	ENSP00000450980.2:n.*61-205_*61-203delinsTTA
ENST00000422005.7:c.*24-205_*24-203delinsTTA	ENSP00000411438.4:n.*24-205_*24-203delinsTTA
ENST00000438257.8:c.223-205_223-203delinsTTA	ENSP00000405854.4:n.223-205_223-203delinsTTA
ENST00000555750.1:c.331-205_331-203delinsTTA	ENSP00000450980.1:n.331-205_331-203delinsTTA
ENST00000555844.1:c.307-205_307-203delinsTTA
ENST00000556811.5:c.199-205_199-203delinsTTA
ENST00000557010.5:c.223-205_223-203delinsTTA	ENSP00000451419.1:n.223-205_223-203delinsTTA
ENST00000557125.1:c.49-407_49-405delinsTTA	ENSP00000450547.1:n.49-407_49-405delinsTTA
NM_000793.5:c.223-205_223-203delinsTTA	NP_000784.2:n.223-205_223-203delinsTTA
NM_001007023.3:c.331-205_331-203delinsTTA	NP_001007024.1:n.331-205_331-203delinsTTA
NM_001242502.1:c.*24-205_*24-203delinsTTA	NP_001229431.1:n.*24-205_*24-203delinsTTA
NM_001242503.1:c.*24-205_*24-203delinsTTA	NP_001229432.1:n.*24-205_*24-203delinsTTA
NM_013989.4:c.223-205_223-203delinsTTA	NP_054644.1:n.223-205_223-203delinsTTA
NM_000793.6:c.223-205_223-203delinsTTA	NP_000784.3:n.223-205_223-203delinsTTA
NM_001324462.2:c.223-205_223-203delinsTTA	NP_001311391.2:n.223-205_223-203delinsTTA
NM_001366496.1:c.223-205_223-203delinsTTA	NP_001353425.1:n.223-205_223-203delinsTTA
NM_013989.5:c.223-205_223-203delinsTTA MANE Select	NP_054644.1:n.223-205_223-203delinsTTA
NR_158990.1:n.363-205_363-203delinsTTA
NR_158991.1:n.497-205_497-203delinsTTA