Canonical Allele Identifier: CA269835
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 132901
ClinVar RCV Id: RCV000119338
dbSNP Id: rs483352880
MyVariant Identifiers: chr18:g.21148834dupG (hg19) chr18:g.21148833_21148834insG (hg19) chr18:g.23568870dupG (hg38) chr18:g.23568869_23568870insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23568870dup , CM000680.2:g.23568870dup GRCh38
NC_000018.9:g.21148834dup , CM000680.1:g.21148834dup GRCh37
NC_000018.8:g.19402832dup NCBI36
NG_012795.1:g.22748dup

Transcript Alleles

HGVS Amino-acid change
ENST00000269228.10:c.416dup MANE Select ENSP00000269228.4:p.Asn140LysfsTer30
ENST00000269228.9:c.416dup ENSP00000269228.4:p.Asn140LysfsTer30
ENST00000540608.5:n.330dup
NM_000271.4:c.416dup NP_000262.2:p.Asn140LysfsTer30
XM_005258277.1:c.416dup XP_005258334.1:p.Asn140LysfsTer30
XM_005258278.3:c.416dup XP_005258335.1:p.Asn140LysfsTer30
XM_005258279.1:c.416dup XP_005258336.1:p.Asn140LysfsTer30
XM_006722479.2:c.416dup XP_006722542.1:p.Asn140LysfsTer30
XM_011526015.1:c.-50dup XP_011524317.1:n.-50dup
XM_005258278.5:c.416dup XP_005258335.1:p.Asn140LysfsTer30
XM_005258279.2:c.416dup XP_005258336.1:p.Asn140LysfsTer30
XM_006722479.3:c.416dup XP_006722542.1:p.Asn140LysfsTer30
XM_017025784.1:c.416dup XP_016881273.1:p.Asn140LysfsTer30
XM_017025785.1:c.416dup XP_016881274.1:p.Asn140LysfsTer30
XM_017025786.1:c.416dup XP_016881275.1:p.Asn140LysfsTer30
XM_017025787.1:c.416dup XP_016881276.1:p.Asn140LysfsTer30
NM_000271.5:c.416dup MANE Select NP_000262.2:p.Asn140LysfsTer30
Search 100 bp 5'
Search 100 bp 3'