Canonical Allele Identifier: CA2695227247

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23560263_23560264insCC , CM000680.2:g.23560263_23560264insCC	GRCh38
NC_000018.9:g.21140227_21140228insCC , CM000680.1:g.21140227_21140228insCC	GRCh37
NC_000018.8:g.19394225_19394226insCC	NCBI36
NG_012795.1:g.31354_31355insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.848_849insGG MANE Select	ENSP00000269228.4:p.Phe283LeufsTer28
ENST00000269228.9:c.848_849insGG	ENSP00000269228.4:p.Phe283LeufsTer28
ENST00000540608.5:n.762_763insGG
ENST00000591051.1:c.79_80insGG
NM_000271.4:c.848_849insGG	NP_000262.2:p.Phe283LeufsTer28
XM_005258277.1:c.848_849insGG	XP_005258334.1:p.Phe283LeufsTer28
XM_005258278.3:c.848_849insGG	XP_005258335.1:p.Phe283LeufsTer28
XM_005258279.1:c.848_849insGG	XP_005258336.1:p.Phe283LeufsTer28
XM_006722479.2:c.848_849insGG	XP_006722542.1:p.Phe283LeufsTer28
XM_011526015.1:c.383_384insGG	XP_011524317.1:p.Phe128LeufsTer28
XM_005258278.5:c.848_849insGG	XP_005258335.1:p.Phe283LeufsTer28
XM_005258279.2:c.848_849insGG	XP_005258336.1:p.Phe283LeufsTer28
XM_006722479.3:c.848_849insGG	XP_006722542.1:p.Phe283LeufsTer28
XM_017025784.1:c.848_849insGG	XP_016881273.1:p.Phe283LeufsTer28
XM_017025785.1:c.848_849insGG	XP_016881274.1:p.Phe283LeufsTer28
XM_017025786.1:c.848_849insGG	XP_016881275.1:p.Phe283LeufsTer28
XM_017025787.1:c.848_849insGG	XP_016881276.1:p.Phe283LeufsTer28
NM_000271.5:c.848_849insGG MANE Select	NP_000262.2:p.Phe283LeufsTer28