Canonical Allele Identifier: CA16044187
Gene: PDSS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375347
ClinVar RCV Id: RCV000416390
dbSNP Id: rs1057519353
MyVariant Identifiers: chr10:g.27012786_27012787insT (hg19) chr10:g.26723857_26723858insT (hg38)
PubMed: PMID:22494076 PMID:28125198
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.26723857_26723858insT , CM000672.2:g.26723857_26723858insT GRCh38
NC_000010.10:g.27012786_27012787insT , CM000672.1:g.27012786_27012787insT GRCh37
NC_000010.9:g.27052792_27052793insT NCBI36
NG_008972.1:g.31192_31193insT
NG_008972.2:g.31192_31193insT

Transcript Alleles

HGVS Amino-acid change
ENST00000376215.10:c.661_662insT MANE Select ENSP00000365388.5:p.Arg221LeufsTer16
ENST00000376215.9:c.661_662insT ENSP00000365388.5:p.Arg221LeufsTer16
ENST00000473224.1:n.495_496insT
ENST00000491711.5:c.69_70insT
NM_014317.3:c.661_662insT NP_055132.2:p.Arg221LeufsTer16
XM_005252439.2:c.151_152insT XP_005252496.1:p.Arg51LeufsTer16
XM_011519437.1:c.292_293insT XP_011517739.1:p.Arg98LeufsTer16
XR_428636.2:n.949_950insT
XR_930486.1:n.949_950insT
NM_001321978.1:c.661_662insT NP_001308907.1:p.Arg221LeufsTer16
NM_001321979.1:c.151_152insT NP_001308908.1:p.Arg51LeufsTer16
NM_014317.4:c.661_662insT NP_055132.2:p.Arg221LeufsTer16
XM_011519437.3:c.292_293insT XP_011517739.1:p.Arg98LeufsTer16
XM_017016011.2:c.340_341insT XP_016871500.1:p.Arg114LeufsTer16
XM_024447922.1:c.661_662insT XP_024303690.1:p.Arg221LeufsTer16
XM_024447923.1:c.151_152insT XP_024303691.1:p.Arg51LeufsTer16
XR_428636.4:n.949_950insT
NM_014317.5:c.661_662insT MANE Select NP_055132.2:p.Arg221LeufsTer16
NM_001321978.2:c.661_662insT NP_001308907.1:p.Arg221LeufsTer16
NM_001321979.2:c.151_152insT NP_001308908.1:p.Arg51LeufsTer16
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