Canonical Allele Identifier: CA2580095543

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1705791
• ClinVar RCV Id: RCV002284101

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535599del , CM000680.2:g.23535599del	GRCh38
NC_000018.9:g.21115563del , CM000680.1:g.21115563del	GRCh37
NC_000018.8:g.19369561del	NCBI36
NG_012795.1:g.56019del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3347del MANE Select	ENSP00000269228.4:p.Leu1116ProfsTer?
ENST00000269228.9:c.3347del	ENSP00000269228.4:p.Leu1116ProfsTer?
ENST00000586150.5:c.102del
ENST00000588867.1:n.102del
ENST00000591051.1:c.2425del
ENST00000591107.6:c.24del
NM_000271.4:c.3347del	NP_000262.2:p.Leu1116ProfsTer?
XM_005258277.1:c.3398del	XP_005258334.1:p.Leu1133ProfsTer?
XM_005258278.3:c.3398del	XP_005258335.1:p.Leu1133ProfsTer?
XM_005258279.1:c.3347del	XP_005258336.1:p.Leu1116ProfsTer?
XM_006722479.2:c.3398del	XP_006722542.1:p.Leu1133ProfsTer?
XM_011526015.1:c.2933del	XP_011524317.1:p.Leu978ProfsTer?
XM_005258278.5:c.3398del	XP_005258335.1:p.Leu1133ProfsTer?
XM_005258279.2:c.3347del	XP_005258336.1:p.Leu1116ProfsTer?
XM_006722479.3:c.3398del	XP_006722542.1:p.Leu1133ProfsTer?
XM_017025784.1:c.3398del	XP_016881273.1:p.Leu1133ProfsTer?
XM_017025785.1:c.3398del	XP_016881274.1:p.Leu1133ProfsTer?
XM_017025786.1:c.3347del	XP_016881275.1:p.Leu1116ProfsTer?
XM_017025787.1:c.3347del	XP_016881276.1:p.Leu1116ProfsTer?
NM_000271.5:c.3347del MANE Select	NP_000262.2:p.Leu1116ProfsTer?