Canonical Allele Identifier: CA913014994

Gene: NPC1

Linked Data

• MyVariant Identifiers: chr18:g.21119857_21119858del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539893_23539894del , CM000680.2:g.23539893_23539894del	GRCh38
NC_000018.9:g.21119857_21119858del , CM000680.1:g.21119857_21119858del	GRCh37
NC_000018.8:g.19373855_19373856del	NCBI36
NG_012795.1:g.51724_51725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2712_2713del MANE Select	ENSP00000269228.4:p.Gln905GlufsTer12
ENST00000269228.9:c.2712_2713del	ENSP00000269228.4:p.Gln905GlufsTer12
ENST00000540608.5:n.2626_2627del
ENST00000586718.1:n.503_504del
ENST00000591051.1:c.1790_1791del
ENST00000591075.1:n.5_6del
NM_000271.4:c.2712_2713del	NP_000262.2:p.Gln905GlufsTer12
XM_005258277.1:c.2763_2764del	XP_005258334.1:p.Gln922GlufsTer12
XM_005258278.3:c.2763_2764del	XP_005258335.1:p.Gln922GlufsTer12
XM_005258279.1:c.2712_2713del	XP_005258336.1:p.Gln905GlufsTer12
XM_006722479.2:c.2763_2764del	XP_006722542.1:p.Gln922GlufsTer12
XM_011526015.1:c.2298_2299del	XP_011524317.1:p.Gln767GlufsTer12
XM_005258278.5:c.2763_2764del	XP_005258335.1:p.Gln922GlufsTer12
XM_005258279.2:c.2712_2713del	XP_005258336.1:p.Gln905GlufsTer12
XM_006722479.3:c.2763_2764del	XP_006722542.1:p.Gln922GlufsTer12
XM_017025784.1:c.2763_2764del	XP_016881273.1:p.Gln922GlufsTer12
XM_017025785.1:c.2763_2764del	XP_016881274.1:p.Gln922GlufsTer12
XM_017025786.1:c.2712_2713del	XP_016881275.1:p.Gln905GlufsTer12
XM_017025787.1:c.2712_2713del	XP_016881276.1:p.Gln905GlufsTer12
NM_000271.5:c.2712_2713del MANE Select	NP_000262.2:p.Gln905GlufsTer12