Canonical Allele Identifier: CA2576470635

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539923_23539924dup , CM000680.2:g.23539923_23539924dup	GRCh38
NC_000018.9:g.21119887_21119888dup , CM000680.1:g.21119887_21119888dup	GRCh37
NC_000018.8:g.19373885_19373886dup	NCBI36
NG_012795.1:g.51694_51695dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2682_2683dup MANE Select	ENSP00000269228.4:p.Glu895GlyfsTer?
ENST00000269228.9:c.2682_2683dup	ENSP00000269228.4:p.Glu895GlyfsTer?
ENST00000540608.5:n.2596_2597dup
ENST00000586718.1:n.473_474dup
ENST00000591051.1:c.1760_1761dup
NM_000271.4:c.2682_2683dup	NP_000262.2:p.Glu895GlyfsTer?
XM_005258277.1:c.2733_2734dup	XP_005258334.1:p.Glu912GlyfsTer?
XM_005258278.3:c.2733_2734dup	XP_005258335.1:p.Glu912GlyfsTer?
XM_005258279.1:c.2682_2683dup	XP_005258336.1:p.Glu895GlyfsTer?
XM_006722479.2:c.2733_2734dup	XP_006722542.1:p.Glu912GlyfsTer?
XM_011526015.1:c.2268_2269dup	XP_011524317.1:p.Glu757GlyfsTer?
XM_005258278.5:c.2733_2734dup	XP_005258335.1:p.Glu912GlyfsTer?
XM_005258279.2:c.2682_2683dup	XP_005258336.1:p.Glu895GlyfsTer?
XM_006722479.3:c.2733_2734dup	XP_006722542.1:p.Glu912GlyfsTer?
XM_017025784.1:c.2733_2734dup	XP_016881273.1:p.Glu912GlyfsTer?
XM_017025785.1:c.2733_2734dup	XP_016881274.1:p.Glu912GlyfsTer?
XM_017025786.1:c.2682_2683dup	XP_016881275.1:p.Glu895GlyfsTer?
XM_017025787.1:c.2682_2683dup	XP_016881276.1:p.Glu895GlyfsTer?
NM_000271.5:c.2682_2683dup MANE Select	NP_000262.2:p.Glu895GlyfsTer?