Canonical Allele Identifier: CA2625915534

Gene: DIO2

Linked Data

• gnomAD v4: 14-80203284-T-TCCAGTGTGGTGCATG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203284_80203285insCCAGTGTGGTGCATG , CM000676.2:g.80203284_80203285insCCAGTGTGGTGCATG	GRCh38
NC_000014.8:g.80669627_80669628insCCAGTGTGGTGCATG , CM000676.1:g.80669627_80669628insCCAGTGTGGTGCATG	GRCh37
NC_000014.7:g.79739380_79739381insCCAGTGTGGTGCATG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.226_227insCATGCACCACACTGG MANE Select	ENSP00000405854.5:p.Lys76delinsThrCysThrThrLeuGlu
ENST00000555750.2:c.*64_*65insCATGCACCACACTGG	ENSP00000450980.2:n.*64_*65insCATGCACCACACTGG
ENST00000422005.7:c.*27_*28insCATGCACCACACTGG	ENSP00000411438.4:n.*27_*28insCATGCACCACACTGG
ENST00000438257.8:c.226_227insCATGCACCACACTGG	ENSP00000405854.4:p.Lys76delinsThrCysThrThrLeuGlu
ENST00000555750.1:c.334_335insCATGCACCACACTGG	ENSP00000450980.1:p.Lys112delinsThrCysThrThrLeuGlu
ENST00000555844.1:c.310_311insCATGCACCACACTGG
ENST00000556811.5:c.202_203insCATGCACCACACTGG
ENST00000557010.5:c.226_227insCATGCACCACACTGG	ENSP00000451419.1:p.Lys76delinsThrCysThrThrLeuGlu
ENST00000557125.1:c.49-199_49-198insCATGCACCACACTGG	ENSP00000450547.1:n.49-199_49-198insCATGCACCACACTGG
NM_000793.5:c.226_227insCATGCACCACACTGG	NP_000784.2:p.Lys76delinsThrCysThrThrLeuGlu
NM_001007023.3:c.334_335insCATGCACCACACTGG	NP_001007024.1:p.Lys112delinsThrCysThrThrLeuGlu
NM_001242502.1:c.*27_*28insCATGCACCACACTGG	NP_001229431.1:n.*27_*28insCATGCACCACACTGG
NM_001242503.1:c.*27_*28insCATGCACCACACTGG	NP_001229432.1:n.*27_*28insCATGCACCACACTGG
NM_013989.4:c.226_227insCATGCACCACACTGG	NP_054644.1:p.Lys76delinsThrCysThrThrLeuGlu
NM_000793.6:c.226_227insCATGCACCACACTGG	NP_000784.3:p.Lys76delinsThrCysThrThrLeuGlu
NM_001324462.2:c.226_227insCATGCACCACACTGG	NP_001311391.2:p.Lys76delinsThrCysThrThrLeuGlu
NM_001366496.1:c.226_227insCATGCACCACACTGG	NP_001353425.1:p.Lys76delinsThrCysThrThrLeuGlu
NM_013989.5:c.226_227insCATGCACCACACTGG MANE Select	NP_054644.1:p.Lys76delinsThrCysThrThrLeuGlu
NR_158990.1:n.366_367insCATGCACCACACTGG
NR_158991.1:n.500_501insCATGCACCACACTGG