Canonical Allele Identifier: CA341819
Gene: NSDHL HGNC NCBI

Linked Data

dbSNP Id: rs121909833
MyVariant Identifiers: chrX:g.152036124_152036126del (hg19) chrX:g.152867580_152867582del (hg38)
PubMed: PMID:19842190 PMID:21129721 PMID:21290788
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152867580_152867582del , CM000685.2:g.152867580_152867582del GRCh38
NC_000023.10:g.152036124_152036126del , CM000685.1:g.152036124_152036126del GRCh37
NC_000023.9:g.151786780_151786782del NCBI36
NG_009163.1:g.41614_41616del
NG_009163.2:g.41614_41616del

Transcript Alleles

HGVS Amino-acid change
ENST00000370274.8:c.696_698del MANE Select ENSP00000359297.3:p.Lys232del
ENST00000370274.7:c.696_698del ENSP00000359297.3:p.Lys232del
ENST00000432467.1:c.696_698del ENSP00000396266.1:p.Lys232del
ENST00000440023.5:c.696_698del ENSP00000391854.1:p.Lys232del
NM_001129765.1:c.696_698del NP_001123237.1:p.Lys232del
NM_015922.2:c.696_698del NP_057006.1:p.Lys232del
XM_011531178.1:c.696_698del XP_011529480.1:p.Lys232del
XM_011531178.2:c.696_698del XP_011529480.1:p.Lys232del
XM_017029564.1:c.744_746del XP_016885053.1:p.Lys248del
NM_015922.3:c.696_698del MANE Select NP_057006.1:p.Lys232del
NM_001129765.2:c.696_698del NP_001123237.1:p.Lys232del
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