Canonical Allele Identifier: CA2580612673

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1705801
• ClinVar RCV Id: RCV002284111

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568859_23568860del , CM000680.2:g.23568859_23568860del	GRCh38
NC_000018.9:g.21148823_21148824del , CM000680.1:g.21148823_21148824del	GRCh37
NC_000018.8:g.19402821_19402822del	NCBI36
NG_012795.1:g.22760_22761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.428_429del MANE Select	ENSP00000269228.4:p.Glu143ValfsTer26
ENST00000269228.9:c.428_429del	ENSP00000269228.4:p.Glu143ValfsTer26
ENST00000540608.5:n.342_343del
NM_000271.4:c.428_429del	NP_000262.2:p.Glu143ValfsTer26
XM_005258277.1:c.428_429del	XP_005258334.1:p.Glu143ValfsTer26
XM_005258278.3:c.428_429del	XP_005258335.1:p.Glu143ValfsTer26
XM_005258279.1:c.428_429del	XP_005258336.1:p.Glu143ValfsTer26
XM_006722479.2:c.428_429del	XP_006722542.1:p.Glu143ValfsTer26
XM_011526015.1:c.-38_-37del	XP_011524317.1:n.-38_-37del
XM_005258278.5:c.428_429del	XP_005258335.1:p.Glu143ValfsTer26
XM_005258279.2:c.428_429del	XP_005258336.1:p.Glu143ValfsTer26
XM_006722479.3:c.428_429del	XP_006722542.1:p.Glu143ValfsTer26
XM_017025784.1:c.428_429del	XP_016881273.1:p.Glu143ValfsTer26
XM_017025785.1:c.428_429del	XP_016881274.1:p.Glu143ValfsTer26
XM_017025786.1:c.428_429del	XP_016881275.1:p.Glu143ValfsTer26
XM_017025787.1:c.428_429del	XP_016881276.1:p.Glu143ValfsTer26
NM_000271.5:c.428_429del MANE Select	NP_000262.2:p.Glu143ValfsTer26