Canonical Allele Identifier: CA2625915512

Gene: DIO2

Linked Data

• gnomAD v4: 14-80203198-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203201_80203203del , CM000676.2:g.80203201_80203203del	GRCh38
NC_000014.8:g.80669544_80669546del , CM000676.1:g.80669544_80669546del	GRCh37
NC_000014.7:g.79739297_79739299del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.310_312del MANE Select	ENSP00000405854.5:p.Glu104del
ENST00000555750.2:c.*148_*150del	ENSP00000450980.2:n.*148_*150del
ENST00000422005.7:c.*111_*113del	ENSP00000411438.4:n.*111_*113del
ENST00000438257.8:c.310_312del	ENSP00000405854.4:p.Glu104del
ENST00000555750.1:c.418_420del	ENSP00000450980.1:p.Glu140del
ENST00000555844.1:c.394_396del
ENST00000556811.5:c.286_288del
ENST00000557010.5:c.310_312del	ENSP00000451419.1:p.Glu104del
ENST00000557125.1:c.49-115_49-113del	ENSP00000450547.1:n.49-115_49-113del
NM_000793.5:c.310_312del	NP_000784.2:p.Glu104del
NM_001007023.3:c.418_420del	NP_001007024.1:p.Glu140del
NM_001242502.1:c.*111_*113del	NP_001229431.1:n.*111_*113del
NM_001242503.1:c.*111_*113del	NP_001229432.1:n.*111_*113del
NM_013989.4:c.310_312del	NP_054644.1:p.Glu104del
NM_000793.6:c.310_312del	NP_000784.3:p.Glu104del
NM_001324462.2:c.310_312del	NP_001311391.2:p.Glu104del
NM_001366496.1:c.310_312del	NP_001353425.1:p.Glu104del
NM_013989.5:c.310_312del MANE Select	NP_054644.1:p.Glu104del
NR_158990.1:n.450_452del
NR_158991.1:n.584_586del