Canonical Allele Identifier: CA16043032
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373793
ClinVar RCV Id: RCV000414321
dbSNP Id: rs1057518613
COSMIC: COSM1388036 COSM5155990
MyVariant Identifiers: chr18:g.21121356_21121357del (hg19) chr18:g.23541392_23541393del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23541399_23541400del , CM000680.2:g.23541399_23541400del GRCh38
NC_000018.9:g.21121363_21121364del , CM000680.1:g.21121363_21121364del GRCh37
NC_000018.8:g.19375361_19375362del NCBI36
NG_012795.1:g.50225_50226del

Transcript Alleles

HGVS Amino-acid change
ENST00000269228.10:c.2286_2287del MANE Select ENSP00000269228.4:p.Phe763CysfsTer8
ENST00000269228.9:c.2286_2287del ENSP00000269228.4:p.Phe763CysfsTer8
ENST00000540608.5:n.2200_2201del
ENST00000591051.1:c.1364_1365del
NM_000271.4:c.2286_2287del NP_000262.2:p.Phe763CysfsTer8
XM_005258277.1:c.2337_2338del XP_005258334.1:p.Phe780CysfsTer8
XM_005258278.3:c.2337_2338del XP_005258335.1:p.Phe780CysfsTer8
XM_005258279.1:c.2286_2287del XP_005258336.1:p.Phe763CysfsTer8
XM_006722479.2:c.2337_2338del XP_006722542.1:p.Phe780CysfsTer8
XM_011526015.1:c.1872_1873del XP_011524317.1:p.Phe625CysfsTer8
XM_005258278.5:c.2337_2338del XP_005258335.1:p.Phe780CysfsTer8
XM_005258279.2:c.2286_2287del XP_005258336.1:p.Phe763CysfsTer8
XM_006722479.3:c.2337_2338del XP_006722542.1:p.Phe780CysfsTer8
XM_017025784.1:c.2337_2338del XP_016881273.1:p.Phe780CysfsTer8
XM_017025785.1:c.2337_2338del XP_016881274.1:p.Phe780CysfsTer8
XM_017025786.1:c.2286_2287del XP_016881275.1:p.Phe763CysfsTer8
XM_017025787.1:c.2286_2287del XP_016881276.1:p.Phe763CysfsTer8
NM_000271.5:c.2286_2287del MANE Select NP_000262.2:p.Phe763CysfsTer8
Search 100 bp 5'
Search 100 bp 3'