Canonical Allele Identifier: CA965121901

Gene: DIO2

Linked Data

• gnomAD v3: 14-80203287-ACCTGACGGT-A
• gnomAD v4: 14-80203287-ACCTGACGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203288_80203296del , CM000676.2:g.80203288_80203296del	GRCh38
NC_000014.8:g.80669631_80669639del , CM000676.1:g.80669631_80669639del	GRCh37
NC_000014.7:g.79739384_79739392del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.223-8_223del
ENST00000555750.2:c.*61-8_*61del
ENST00000422005.7:c.*24-8_*24del
ENST00000438257.8:c.223-8_223del
ENST00000555750.1:c.331-8_331del
ENST00000555844.1:c.307-8_307del
ENST00000556811.5:c.199-8_199del
ENST00000557010.5:c.223-8_223del
ENST00000557125.1:c.49-210_49-202del	ENSP00000450547.1:n.49-210_49-202del
NM_000793.5:c.223-8_223del
NM_001007023.3:c.331-8_331del
NM_001242502.1:c.*24-8_*24del
NM_001242503.1:c.*24-8_*24del
NM_013989.4:c.223-8_223del
NM_000793.6:c.223-8_223del
NM_001324462.2:c.223-8_223del
NM_001366496.1:c.223-8_223del
NM_013989.5:c.223-8_223del
NR_158990.1:n.363-8_363del
NR_158991.1:n.497-8_497del