Canonical Allele Identifier: CA16043698
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374342
ClinVar RCV Id: RCV000415044
dbSNP Id: rs1057518711
MyVariant Identifiers: chr18:g.21140237del (hg19) chr18:g.23560273del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23560277del , CM000680.2:g.23560277del GRCh38
NC_000018.9:g.21140241del , CM000680.1:g.21140241del GRCh37
NC_000018.8:g.19394239del NCBI36
NG_012795.1:g.31345del

Transcript Alleles

HGVS Amino-acid change
ENST00000269228.10:c.839del MANE Select ENSP00000269228.4:p.Leu280CysfsTer30
ENST00000269228.9:c.839del ENSP00000269228.4:p.Leu280CysfsTer30
ENST00000540608.5:n.753del
ENST00000591051.1:c.70del
NM_000271.4:c.839del NP_000262.2:p.Leu280CysfsTer30
XM_005258277.1:c.839del XP_005258334.1:p.Leu280CysfsTer30
XM_005258278.3:c.839del XP_005258335.1:p.Leu280CysfsTer30
XM_005258279.1:c.839del XP_005258336.1:p.Leu280CysfsTer30
XM_006722479.2:c.839del XP_006722542.1:p.Leu280CysfsTer30
XM_011526015.1:c.374del XP_011524317.1:p.Leu125CysfsTer30
XM_005258278.5:c.839del XP_005258335.1:p.Leu280CysfsTer30
XM_005258279.2:c.839del XP_005258336.1:p.Leu280CysfsTer30
XM_006722479.3:c.839del XP_006722542.1:p.Leu280CysfsTer30
XM_017025784.1:c.839del XP_016881273.1:p.Leu280CysfsTer30
XM_017025785.1:c.839del XP_016881274.1:p.Leu280CysfsTer30
XM_017025786.1:c.839del XP_016881275.1:p.Leu280CysfsTer30
XM_017025787.1:c.839del XP_016881276.1:p.Leu280CysfsTer30
NM_000271.5:c.839del MANE Select NP_000262.2:p.Leu280CysfsTer30
Search 100 bp 5'
Search 100 bp 3'