Canonical Allele Identifier: CA7541236
Gene: DUOX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 402808
ClinVar RCV Id: RCV000455079
dbSNP Id: rs760297837
ExAC: 15:45445691 AAT / A
gnomAD v2: 15-45445691-AAT-A
gnomAD v3: 15-45153493-AAT-A
gnomAD v4: 15-45153493-AAT-A
MyVariant Identifiers: chr15:g.45445692_45445693del (hg19) chr15:g.45445692_45445707delinsGTGTGTGTGTGTGT (hg19) chr15:g.45445692_45445709delinsGTGTGTGTGTGTGTGT (hg19) chr15:g.45153494_45153495del (hg38) chr15:g.45153494_45153509delinsGTGTGTGTGTGTGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45153494_45153495del , CM000677.2:g.45153494_45153495del GRCh38
NC_000015.9:g.45445692_45445693del , CM000677.1:g.45445692_45445693del GRCh37
NC_000015.8:g.43232984_43232985del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321429.8:c.3524+15_3524+16del ENSP00000317997.4:n.3524+15_3524+16del
ENST00000389037.7:c.3524+15_3524+16del MANE Select ENSP00000373689.3:n.3524+15_3524+16del
ENST00000559221.1:n.117+15_117+16del
ENST00000559716.6:n.555+15_555+16del
ENST00000561166.1:c.2462+15_2462+16del ENSP00000454065.1:n.2462+15_2462+16del
ENST00000561220.6:c.*2063+15_*2063+16del ENSP00000452623.1:n.*2063+15_*2063+16del
NM_017434.4:c.3524+15_3524+16del NP_059130.2:n.3524+15_3524+16del
NM_175940.2:c.3524+15_3524+16del NP_787954.1:n.3524+15_3524+16del
XM_011521681.1:c.3407+15_3407+16del XP_011519983.1:n.3407+15_3407+16del
XM_011521682.1:c.2462+15_2462+16del XP_011519984.1:n.2462+15_2462+16del
XM_011521681.2:c.3407+15_3407+16del XP_011519983.1:n.3407+15_3407+16del
NM_175940.3:c.3524+15_3524+16del MANE Select NP_787954.1:n.3524+15_3524+16del
NM_017434.5:c.3524+15_3524+16del NP_059130.2:n.3524+15_3524+16del
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