Canonical Allele Identifier: CA341816
Gene: NSDHL HGNC NCBI

Linked Data

ClinVar Variation Id: 21266
ClinVar RCV Id: RCV000020428
dbSNP Id: rs121909834
MyVariant Identifiers: chrX:g.152037636dupT (hg19) chrX:g.152869092dupT (hg38)
PubMed: PMID:19377476 PMID:21129721 PMID:21290788
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152869092dup , CM000685.2:g.152869092dup GRCh38
NC_000023.10:g.152037636dup , CM000685.1:g.152037636dup GRCh37
NC_000023.9:g.151788292dup NCBI36
NG_009163.1:g.43126dup
NG_009163.2:g.43126dup

Transcript Alleles

HGVS Amino-acid change
ENST00000370274.8:c.1098dup MANE Select ENSP00000359297.3:p.Arg367SerfsTer?
ENST00000370274.7:c.1098dup ENSP00000359297.3:p.Arg367SerfsTer?
ENST00000440023.5:c.1098dup ENSP00000391854.1:p.Arg367SerfsTer?
NM_001129765.1:c.1098dup NP_001123237.1:p.Arg367SerfsTer?
NM_015922.2:c.1098dup NP_057006.1:p.Arg367SerfsTer?
XM_011531178.1:c.1098dup XP_011529480.1:p.Arg367SerfsTer?
XM_011531178.2:c.1098dup XP_011529480.1:p.Arg367SerfsTer?
XM_017029564.1:c.1146dup XP_016885053.1:p.Arg383SerfsTer?
NM_015922.3:c.1098dup MANE Select NP_057006.1:p.Arg367SerfsTer?
NM_001129765.2:c.1098dup NP_001123237.1:p.Arg367SerfsTer?
Search 100 bp 5'
Search 100 bp 3'