Canonical Allele Identifier: CA2580095526

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1705771
• ClinVar RCV Id: RCV002284081

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539887del , CM000680.2:g.23539887del	GRCh38
NC_000018.9:g.21119851del , CM000680.1:g.21119851del	GRCh37
NC_000018.8:g.19373849del	NCBI36
NG_012795.1:g.51731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2719del MANE Select	ENSP00000269228.4:p.Met907TrpfsTer29
ENST00000269228.9:c.2719del	ENSP00000269228.4:p.Met907TrpfsTer29
ENST00000540608.5:n.2633del
ENST00000586718.1:n.510del
ENST00000591051.1:c.1797del
ENST00000591075.1:n.12del
NM_000271.4:c.2719del	NP_000262.2:p.Met907TrpfsTer29
XM_005258277.1:c.2770del	XP_005258334.1:p.Met924TrpfsTer29
XM_005258278.3:c.2770del	XP_005258335.1:p.Met924TrpfsTer29
XM_005258279.1:c.2719del	XP_005258336.1:p.Met907TrpfsTer29
XM_006722479.2:c.2770del	XP_006722542.1:p.Met924TrpfsTer29
XM_011526015.1:c.2305del	XP_011524317.1:p.Met769TrpfsTer29
XM_005258278.5:c.2770del	XP_005258335.1:p.Met924TrpfsTer29
XM_005258279.2:c.2719del	XP_005258336.1:p.Met907TrpfsTer29
XM_006722479.3:c.2770del	XP_006722542.1:p.Met924TrpfsTer29
XM_017025784.1:c.2770del	XP_016881273.1:p.Met924TrpfsTer29
XM_017025785.1:c.2770del	XP_016881274.1:p.Met924TrpfsTer29
XM_017025786.1:c.2719del	XP_016881275.1:p.Met907TrpfsTer29
XM_017025787.1:c.2719del	XP_016881276.1:p.Met907TrpfsTer29
NM_000271.5:c.2719del MANE Select	NP_000262.2:p.Met907TrpfsTer29