Canonical Allele Identifier: CA16041910
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371282
ClinVar RCV Id: RCV000409812
dbSNP Id: rs1057517149
MyVariant Identifiers: chr18:g.21115585del (hg19) chr18:g.23535621del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23535621del , CM000680.2:g.23535621del GRCh38
NC_000018.9:g.21115585del , CM000680.1:g.21115585del GRCh37
NC_000018.8:g.19369583del NCBI36
NG_012795.1:g.55997del

Transcript Alleles

HGVS Amino-acid change
ENST00000269228.10:c.3325del MANE Select ENSP00000269228.4:p.Ile1109TyrfsTer4
ENST00000269228.9:c.3325del ENSP00000269228.4:p.Ile1109TyrfsTer4
ENST00000586150.5:c.80del
ENST00000588867.1:n.80del
ENST00000591051.1:c.2403del
ENST00000591107.6:c.2del
NM_000271.4:c.3325del NP_000262.2:p.Ile1109TyrfsTer4
XM_005258277.1:c.3376del XP_005258334.1:p.Ile1126TyrfsTer4
XM_005258278.3:c.3376del XP_005258335.1:p.Ile1126TyrfsTer4
XM_005258279.1:c.3325del XP_005258336.1:p.Ile1109TyrfsTer4
XM_006722479.2:c.3376del XP_006722542.1:p.Ile1126TyrfsTer4
XM_011526015.1:c.2911del XP_011524317.1:p.Ile971TyrfsTer4
XM_005258278.5:c.3376del XP_005258335.1:p.Ile1126TyrfsTer4
XM_005258279.2:c.3325del XP_005258336.1:p.Ile1109TyrfsTer4
XM_006722479.3:c.3376del XP_006722542.1:p.Ile1126TyrfsTer4
XM_017025784.1:c.3376del XP_016881273.1:p.Ile1126TyrfsTer4
XM_017025785.1:c.3376del XP_016881274.1:p.Ile1126TyrfsTer4
XM_017025786.1:c.3325del XP_016881275.1:p.Ile1109TyrfsTer4
XM_017025787.1:c.3325del XP_016881276.1:p.Ile1109TyrfsTer4
NM_000271.5:c.3325del MANE Select NP_000262.2:p.Ile1109TyrfsTer4
Search 100 bp 5'
Search 100 bp 3'