Canonical Allele Identifier: CA22683070

Gene: DIO1

Linked Data

• dbSNP Id: rs950900311
• gnomAD v3: 1-53909838-GACCACCTCTTGCAACTA-G
• gnomAD v4: 1-53909838-GACCACCTCTTGCAACTA-G
• MyVariant Identifiers: chr1:g.54375512_54375528del (hg19) ; chr1:g.53909839_53909855del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53909842_53909858del , CM000663.2:g.53909842_53909858del	GRCh38
NC_000001.10:g.54375515_54375531del , CM000663.1:g.54375515_54375531del	GRCh37
NC_000001.9:g.54148103_54148119del	NCBI36
NG_023306.1:g.20655_20671del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361921.8:c.682-89_682-73del MANE Select	ENSP00000354643.4:n.682-89_682-73del
ENST00000322679.10:c.482-89_482-73del	ENSP00000323198.6:n.482-89_482-73del
ENST00000361921.7:c.682-89_682-73del	ENSP00000354643.3:n.682-89_682-73del
ENST00000388876.3:c.538-89_538-73del	ENSP00000373528.3:n.538-89_538-73del
ENST00000524406.5:c.295-89_295-73del	ENSP00000434152.1:n.295-89_295-73del
ENST00000525044.5:c.*124-89_*124-73del	ENSP00000436550.1:n.*124-89_*124-73del
ENST00000525202.5:c.490-89_490-73del	ENSP00000435725.1:n.490-89_490-73del
ENST00000527060.5:c.*422-89_*422-73del	ENSP00000435030.1:n.*422-89_*422-73del
ENST00000528946.5:c.*60-89_*60-73del	ENSP00000433891.1:n.*60-89_*60-73del
ENST00000529329.1:c.455-89_455-73del	ENSP00000432700.1:n.455-89_455-73del
ENST00000530084.5:c.*324-89_*324-73del	ENSP00000431999.1:n.*324-89_*324-73del
ENST00000532493.5:c.338-89_338-73del	ENSP00000434758.1:n.338-89_338-73del
ENST00000610607.4:c.*341-89_*341-73del	ENSP00000483367.1:n.*341-89_*341-73del
ENST00000613679.4:c.679-89_679-73del	ENSP00000479755.1:n.679-89_679-73del
ENST00000617230.2:c.479-89_479-73del	ENSP00000481665.1:n.479-89_479-73del
NM_000792.5:c.682-89_682-73del	NP_000783.2:n.682-89_682-73del
NM_001039715.1:c.538-89_538-73del	NP_001034804.1:n.538-89_538-73del
NM_001039716.1:c.482-89_482-73del	NP_001034805.1:n.482-89_482-73del
NM_213593.3:c.490-89_490-73del	NP_998758.1:n.490-89_490-73del
NM_000792.6:c.682-89_682-73del	NP_000783.2:n.682-89_682-73del
NM_001039715.2:c.538-89_538-73del	NP_001034804.1:n.538-89_538-73del
NM_001039716.2:c.482-89_482-73del	NP_001034805.1:n.482-89_482-73del
NM_001324316.1:c.338-89_338-73del	NP_001311245.1:n.338-89_338-73del
NM_213593.4:c.490-89_490-73del	NP_998758.1:n.490-89_490-73del
NR_136692.1:n.597-89_597-73del
NR_136693.1:n.623-89_623-73del
NM_000792.7:c.682-89_682-73del MANE Select	NP_000783.2:n.682-89_682-73del
NM_001039715.3:c.538-89_538-73del	NP_001034804.1:n.538-89_538-73del
NM_001039716.3:c.482-89_482-73del	NP_001034805.1:n.482-89_482-73del
NM_001324316.2:c.338-89_338-73del	NP_001311245.1:n.338-89_338-73del
NM_213593.5:c.490-89_490-73del	NP_998758.1:n.490-89_490-73del
NR_136692.2:n.597-89_597-73del
NR_136693.2:n.623-89_623-73del