Canonical Allele Identifier: CA2580095649

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1724659
• ClinVar RCV Id: RCV002309927

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568908del , CM000680.2:g.23568908del	GRCh38
NC_000018.9:g.21148872del , CM000680.1:g.21148872del	GRCh37
NC_000018.8:g.19402870del	NCBI36
NG_012795.1:g.22710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.378del MANE Select	ENSP00000269228.4:p.Glu127LysfsTer15
ENST00000269228.9:c.378del	ENSP00000269228.4:p.Glu127LysfsTer15
ENST00000540608.5:n.292del
NM_000271.4:c.378del	NP_000262.2:p.Glu127LysfsTer15
XM_005258277.1:c.378del	XP_005258334.1:p.Glu127LysfsTer15
XM_005258278.3:c.378del	XP_005258335.1:p.Glu127LysfsTer15
XM_005258279.1:c.378del	XP_005258336.1:p.Glu127LysfsTer15
XM_006722479.2:c.378del	XP_006722542.1:p.Glu127LysfsTer15
XM_011526015.1:c.-88del	XP_011524317.1:n.-88del
XM_005258278.5:c.378del	XP_005258335.1:p.Glu127LysfsTer15
XM_005258279.2:c.378del	XP_005258336.1:p.Glu127LysfsTer15
XM_006722479.3:c.378del	XP_006722542.1:p.Glu127LysfsTer15
XM_017025784.1:c.378del	XP_016881273.1:p.Glu127LysfsTer15
XM_017025785.1:c.378del	XP_016881274.1:p.Glu127LysfsTer15
XM_017025786.1:c.378del	XP_016881275.1:p.Glu127LysfsTer15
XM_017025787.1:c.378del	XP_016881276.1:p.Glu127LysfsTer15
NM_000271.5:c.378del MANE Select	NP_000262.2:p.Glu127LysfsTer15