Canonical Allele Identifier: CA2625915555

Gene: DIO2

Linked Data

• gnomAD v4: 14-80203292-ACGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203293_80203295del , CM000676.2:g.80203293_80203295del	GRCh38
NC_000014.8:g.80669636_80669638del , CM000676.1:g.80669636_80669638del	GRCh37
NC_000014.7:g.79739389_79739391del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.223-7_223-5del MANE Select	ENSP00000405854.5:n.223-7_223-5del
ENST00000555750.2:c.*61-7_*61-5del	ENSP00000450980.2:n.*61-7_*61-5del
ENST00000422005.7:c.*24-7_*24-5del	ENSP00000411438.4:n.*24-7_*24-5del
ENST00000438257.8:c.223-7_223-5del	ENSP00000405854.4:n.223-7_223-5del
ENST00000555750.1:c.331-7_331-5del	ENSP00000450980.1:n.331-7_331-5del
ENST00000555844.1:c.307-7_307-5del
ENST00000556811.5:c.199-7_199-5del
ENST00000557010.5:c.223-7_223-5del	ENSP00000451419.1:n.223-7_223-5del
ENST00000557125.1:c.49-209_49-207del	ENSP00000450547.1:n.49-209_49-207del
NM_000793.5:c.223-7_223-5del	NP_000784.2:n.223-7_223-5del
NM_001007023.3:c.331-7_331-5del	NP_001007024.1:n.331-7_331-5del
NM_001242502.1:c.*24-7_*24-5del	NP_001229431.1:n.*24-7_*24-5del
NM_001242503.1:c.*24-7_*24-5del	NP_001229432.1:n.*24-7_*24-5del
NM_013989.4:c.223-7_223-5del	NP_054644.1:n.223-7_223-5del
NM_000793.6:c.223-7_223-5del	NP_000784.3:n.223-7_223-5del
NM_001324462.2:c.223-7_223-5del	NP_001311391.2:n.223-7_223-5del
NM_001366496.1:c.223-7_223-5del	NP_001353425.1:n.223-7_223-5del
NM_013989.5:c.223-7_223-5del MANE Select	NP_054644.1:n.223-7_223-5del
NR_158990.1:n.363-7_363-5del
NR_158991.1:n.497-7_497-5del