Canonical Allele Identifier: CA16041909
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370636
ClinVar RCV Id: RCV000412135
dbSNP Id: rs1057516647
MyVariant Identifiers: chr18:g.21115487_21115493del (hg19) chr18:g.23535523_23535529del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23535526_23535532del , CM000680.2:g.23535526_23535532del GRCh38
NC_000018.9:g.21115490_21115496del , CM000680.1:g.21115490_21115496del GRCh37
NC_000018.8:g.19369488_19369494del NCBI36
NG_012795.1:g.56089_56095del

Transcript Alleles

HGVS Amino-acid change
ENST00000269228.10:c.3417_3423del MANE Select ENSP00000269228.4:p.Phe1139LeufsTer9
ENST00000269228.9:c.3417_3423del ENSP00000269228.4:p.Phe1139LeufsTer9
ENST00000586150.5:c.172_178del
ENST00000588867.1:n.172_178del
ENST00000591051.1:c.2495_2501del
ENST00000591107.6:c.94_100del
NM_000271.4:c.3417_3423del NP_000262.2:p.Phe1139LeufsTer9
XM_005258277.1:c.3468_3474del XP_005258334.1:p.Phe1156LeufsTer9
XM_005258278.3:c.3468_3474del XP_005258335.1:p.Phe1156LeufsTer9
XM_005258279.1:c.3417_3423del XP_005258336.1:p.Phe1139LeufsTer9
XM_006722479.2:c.3468_3474del XP_006722542.1:p.Phe1156LeufsTer9
XM_011526015.1:c.3003_3009del XP_011524317.1:p.Phe1001LeufsTer9
XM_005258278.5:c.3468_3474del XP_005258335.1:p.Phe1156LeufsTer9
XM_005258279.2:c.3417_3423del XP_005258336.1:p.Phe1139LeufsTer9
XM_006722479.3:c.3468_3474del XP_006722542.1:p.Phe1156LeufsTer9
XM_017025784.1:c.3468_3474del XP_016881273.1:p.Phe1156LeufsTer9
XM_017025785.1:c.3468_3474del XP_016881274.1:p.Phe1156LeufsTer9
XM_017025786.1:c.3417_3423del XP_016881275.1:p.Phe1139LeufsTer9
XM_017025787.1:c.3417_3423del XP_016881276.1:p.Phe1139LeufsTer9
NM_000271.5:c.3417_3423del MANE Select NP_000262.2:p.Phe1139LeufsTer9
Search 100 bp 5'
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