Canonical Allele Identifier: CA2573155262

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1387257
• ClinVar RCV Id: RCV001881855
• dbSNP Id: rs2145394955
• gnomAD v4: 18-23543520-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23543523del , CM000680.2:g.23543523del	GRCh38
NC_000018.9:g.21123487del , CM000680.1:g.21123487del	GRCh37
NC_000018.8:g.19377485del	NCBI36
NG_012795.1:g.48097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2179del MANE Select	ENSP00000269228.4:p.Val727SerfsTer2
ENST00000269228.9:c.2179del	ENSP00000269228.4:p.Val727SerfsTer2
ENST00000540608.5:n.2093del
ENST00000591051.1:c.1257del
NM_000271.4:c.2179del	NP_000262.2:p.Val727SerfsTer2
XM_005258277.1:c.2230del	XP_005258334.1:p.Val744SerfsTer2
XM_005258278.3:c.2230del	XP_005258335.1:p.Val744SerfsTer2
XM_005258279.1:c.2179del	XP_005258336.1:p.Val727SerfsTer2
XM_006722479.2:c.2230del	XP_006722542.1:p.Val744SerfsTer2
XM_011526015.1:c.1765del	XP_011524317.1:p.Val589SerfsTer2
XM_005258278.5:c.2230del	XP_005258335.1:p.Val744SerfsTer2
XM_005258279.2:c.2179del	XP_005258336.1:p.Val727SerfsTer2
XM_006722479.3:c.2230del	XP_006722542.1:p.Val744SerfsTer2
XM_017025784.1:c.2230del	XP_016881273.1:p.Val744SerfsTer2
XM_017025785.1:c.2230del	XP_016881274.1:p.Val744SerfsTer2
XM_017025786.1:c.2179del	XP_016881275.1:p.Val727SerfsTer2
XM_017025787.1:c.2179del	XP_016881276.1:p.Val727SerfsTer2
NM_000271.5:c.2179del MANE Select	NP_000262.2:p.Val727SerfsTer2