Canonical Allele Identifier: CA2290180279

Gene: NPC1

Linked Data

• dbSNP Id: rs2059158071

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568535_23568536del , CM000680.2:g.23568535_23568536del	GRCh38
NC_000018.9:g.21148499_21148500del , CM000680.1:g.21148499_21148500del	GRCh37
NC_000018.8:g.19402497_19402498del	NCBI36
NG_012795.1:g.23084_23085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.463+289_463+290del MANE Select	ENSP00000269228.4:n.463+289_463+290del
ENST00000269228.9:c.463+289_463+290del	ENSP00000269228.4:n.463+289_463+290del
ENST00000540608.5:n.377+289_377+290del
NM_000271.4:c.463+289_463+290del	NP_000262.2:n.463+289_463+290del
XM_005258277.1:c.463+289_463+290del	XP_005258334.1:n.463+289_463+290del
XM_005258278.3:c.463+289_463+290del	XP_005258335.1:n.463+289_463+290del
XM_005258279.1:c.463+289_463+290del	XP_005258336.1:n.463+289_463+290del
XM_006722479.2:c.463+289_463+290del	XP_006722542.1:n.463+289_463+290del
XM_011526015.1:c.-3+289_-3+290del	XP_011524317.1:n.-3+289_-3+290del
XM_005258278.5:c.463+289_463+290del	XP_005258335.1:n.463+289_463+290del
XM_005258279.2:c.463+289_463+290del	XP_005258336.1:n.463+289_463+290del
XM_006722479.3:c.463+289_463+290del	XP_006722542.1:n.463+289_463+290del
XM_017025784.1:c.463+289_463+290del	XP_016881273.1:n.463+289_463+290del
XM_017025785.1:c.463+289_463+290del	XP_016881274.1:n.463+289_463+290del
XM_017025786.1:c.463+289_463+290del	XP_016881275.1:n.463+289_463+290del
XM_017025787.1:c.463+289_463+290del	XP_016881276.1:n.463+289_463+290del
NM_000271.5:c.463+289_463+290del MANE Select	NP_000262.2:n.463+289_463+290del