Canonical Allele Identifier: CA965126302

Gene: DIO2 DIO2-AS1

Linked Data

• gnomAD v3: 14-80211923-C-CTTTCATTGTCTCTATGCTCTTTACAGGCTACGTTTAAAGAGCATAGAGATTTTAAAATTTTCTTTAGT
• gnomAD v4: 14-80211923-C-CTTTCATTGTCTCTATGCTCTTTACAGGCTACGTTTAAAGAGCATAGAGATTTTAAAATTTTCTTTAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80211923_80211924insTTTCATTGTCTCTATGCTCTTTACAGGCTACGTTTAAAGAGCATAGAGATTTTAAAATTTTCTTTAGT , CM000676.2:g.80211923_80211924insTTTCATTGTCTCTATGCTCTTTACAGGCTACGTTTAAAGAGCATAGAGATTTTAAAATTTTCTTTAGT	GRCh38
NC_000014.8:g.80678266_80678267insTTTCATTGTCTCTATGCTCTTTACAGGCTACGTTTAAAGAGCATAGAGATTTTAAAATTTTCTTTAGT , CM000676.1:g.80678266_80678267insTTTCATTGTCTCTATGCTCTTTACAGGCTACGTTTAAAGAGCATAGAGATTTTAAAATTTTCTTTAGT	GRCh37
NC_000014.7:g.79748019_79748020insTTTCATTGTCTCTATGCTCTTTACAGGCTACGTTTAAAGAGCATAGAGATTTTAAAATTTTCTTTAGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553594.1:c.-53-399_-53-398insACTAAAGAAAATTTTAAAATCTCTATGCTCTTTAAACGTAGCCTGTAAAGAGCATAGAGACAATGAAA (DIO2)	ENSP00000451265.1:n.-53-399_-53-398insACTAAAGAAAATTTTAAAATCTC...
ENST00000553968.1:c.-144_-143insACTAAAGAAAATTTTAAAATCTCTATGCTCTTTAAACGTAGCCTGTAAAGAGCATAGAGACAATGAAA (DIO2)	ENSP00000451339.1:n.-144_-143insACTAAAGAAAATTTTAAAATCTCTATGCT...
ENST00000554188.5:c.-53-399_-53-398insACTAAAGAAAATTTTAAAATCTCTATGCTCTTTAAACGTAGCCTGTAAAGAGCATAGAGACAATGAAA (DIO2)	ENSP00000451136.1:n.-53-399_-53-398insACTAAAGAAAATTTTAAAATCTC...
ENST00000557010.5:c.-53-399_-53-398insACTAAAGAAAATTTTAAAATCTCTATGCTCTTTAAACGTAGCCTGTAAAGAGCATAGAGACAATGAAA (DIO2)	ENSP00000451419.1:n.-53-399_-53-398insACTAAAGAAAATTTTAAAATCTC...
NM_000793.5:c.-53-399_-53-398insACTAAAGAAAATTTTAAAATCTCTATGCTCTTTAAACGTAGCCTGTAAAGAGCATAGAGACAATGAAA (DIO2)	NP_000784.2:n.-53-399_-53-398insACTAAAGAAAATTTTAAAATCTCTATGCT...
NR_038355.1:n.70+435_70+436insTTTCATTGTCTCTATGCTCTTTACAGGCTACGTTTAAAGAGCATAGAGATTTTAAAATTTTCTTTAGT (DIO2-AS1)
NM_000793.6:c.-53-399_-53-398insACTAAAGAAAATTTTAAAATCTCTATGCTCTTTAAACGTAGCCTGTAAAGAGCATAGAGACAATGAAA (DIO2)	NP_000784.3:n.-53-399_-53-398insACTAAAGAAAATTTTAAAATCTCTATGCT...
NM_001324462.2:c.-144_-143insACTAAAGAAAATTTTAAAATCTCTATGCTCTTTAAACGTAGCCTGTAAAGAGCATAGAGACAATGAAA (DIO2)	NP_001311391.2:n.-144_-143insACTAAAGAAAATTTTAAAATCTCTATGCTCTT...