Canonical Allele Identifier: CA2149670976

Gene: DIO2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203230_80203233delinsCCTT , CM000676.2:g.80203230_80203233delinsCCTT	GRCh38
NC_000014.8:g.80669573_80669576delinsCCTT , CM000676.1:g.80669573_80669576delinsCCTT	GRCh37
NC_000014.7:g.79739326_79739329delinsCCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.278_281delinsAAGG MANE Select	ENSP00000405854.5:p.Glu93=
ENST00000555750.2:c.*116_*119delinsAAGG	ENSP00000450980.2:n.*116_*119delinsAAGG
ENST00000422005.7:c.*79_*82delinsAAGG	ENSP00000411438.4:n.*79_*82delinsAAGG
ENST00000438257.8:c.278_281delinsAAGG	ENSP00000405854.4:p.Glu93=
ENST00000555750.1:c.386_389delinsAAGG	ENSP00000450980.1:p.Glu129=
ENST00000555844.1:c.362_365delinsAAGG
ENST00000556811.5:c.254_257delinsAAGG
ENST00000557010.5:c.278_281delinsAAGG	ENSP00000451419.1:p.Glu93=
ENST00000557125.1:c.49-147_49-144delinsAAGG	ENSP00000450547.1:n.49-147_49-144delinsAAGG
NM_000793.5:c.278_281delinsAAGG	NP_000784.2:p.Glu93=
NM_001007023.3:c.386_389delinsAAGG	NP_001007024.1:p.Glu129=
NM_001242502.1:c.*79_*82delinsAAGG	NP_001229431.1:n.*79_*82delinsAAGG
NM_001242503.1:c.*79_*82delinsAAGG	NP_001229432.1:n.*79_*82delinsAAGG
NM_013989.4:c.278_281delinsAAGG	NP_054644.1:p.Glu93=
NM_000793.6:c.278_281delinsAAGG	NP_000784.3:p.Glu93=
NM_001324462.2:c.278_281delinsAAGG	NP_001311391.2:p.Glu93=
NM_001366496.1:c.278_281delinsAAGG	NP_001353425.1:p.Glu93=
NM_013989.5:c.278_281delinsAAGG MANE Select	NP_054644.1:p.Glu93=
NR_158990.1:n.418_421delinsAAGG
NR_158991.1:n.552_555delinsAAGG