Canonical Allele Identifier: CA16620267
Gene: HYDIN HGNC NCBI

Linked Data

ClinVar Variation Id: 422647
ClinVar RCV Id: RCV000484237
dbSNP Id: rs1064795912
MyVariant Identifiers: chr16:g.70883655_70883656del (hg19) chr16:g.70849752_70849753del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70849753_70849754del , CM000678.2:g.70849753_70849754del GRCh38
NC_000016.9:g.70883656_70883657del , CM000678.1:g.70883656_70883657del GRCh37
NG_033116.1:g.385970_385971del
NG_033116.2:g.385970_385971del

Transcript Alleles

HGVS Amino-acid change
ENST00000393567.7:c.12846_12847del MANE Select ENSP00000377197.2:p.Leu4283AspfsTer?
ENST00000378856.8:c.1750_1751del
ENST00000393567.6:c.12846_12847del ENSP00000377197.2:p.Leu4283AspfsTer?
NM_001270974.1:c.12846_12847del NP_001257903.1:p.Leu4283AspfsTer?
XM_006721206.2:c.12897_12898del XP_006721269.1:p.Leu4300AspfsTer?
XM_011523146.1:c.13029_13030del XP_011521448.1:p.Leu4344AspfsTer?
XM_011523147.1:c.12999_13000del XP_011521449.1:p.Leu4334AspfsTer?
XM_011523148.1:c.12948_12949del XP_011521450.1:p.Leu4317AspfsTer?
XM_011523149.1:c.12948_12949del XP_011521451.1:p.Leu4317AspfsTer?
XM_011523150.1:c.12948_12949del XP_011521452.1:p.Leu4317AspfsTer?
XM_011523151.1:c.12927_12928del XP_011521453.1:p.Leu4310AspfsTer?
XM_011523152.1:c.6708_6709del XP_011521454.1:p.Leu2237AspfsTer?
XM_011523153.1:c.6234_6235del XP_011521455.1:p.Leu2079AspfsTer?
XM_011523154.1:c.5826_5827del XP_011521456.1:p.Leu1943AspfsTer?
XM_011523155.1:c.5736_5737del XP_011521457.1:p.Leu1913AspfsTer?
NM_001270974.2:c.12846_12847del MANE Select NP_001257903.1:p.Leu4283AspfsTer?
XM_006721206.3:c.12897_12898del XP_006721269.1:p.Leu4300AspfsTer?
XM_011523146.2:c.13029_13030del XP_011521448.1:p.Leu4344AspfsTer?
XM_011523151.2:c.12927_12928del XP_011521453.1:p.Leu4310AspfsTer?
XM_011523155.2:c.5736_5737del XP_011521457.1:p.Leu1913AspfsTer?
XM_017023346.2:c.12966_12967del XP_016878835.1:p.Leu4323AspfsTer?
XM_017023347.1:c.11058_11059del XP_016878836.1:p.Leu3687AspfsTer?
XM_017023348.1:c.11058_11059del XP_016878837.1:p.Leu3687AspfsTer?
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