Canonical Allele Identifier: CA2290168481

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23545246_23545247delinsCT , CM000680.2:g.23545246_23545247delinsCT	GRCh38
NC_000018.9:g.21125210_21125211delinsCT , CM000680.1:g.21125210_21125211delinsCT	GRCh37
NC_000018.8:g.19379208_19379209delinsCT	NCBI36
NG_012795.1:g.46371_46372delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1758-98_1758-97delinsAG MANE Select	ENSP00000269228.4:n.1758-98_1758-97delinsAG
ENST00000269228.9:c.1758-98_1758-97delinsAG	ENSP00000269228.4:n.1758-98_1758-97delinsAG
ENST00000540608.5:n.1672-98_1672-97delinsAG
ENST00000591051.1:c.836-98_836-97delinsAG
NM_000271.4:c.1758-98_1758-97delinsAG	NP_000262.2:n.1758-98_1758-97delinsAG
XM_005258277.1:c.1809-98_1809-97delinsAG	XP_005258334.1:n.1809-98_1809-97delinsAG
XM_005258278.3:c.1809-98_1809-97delinsAG	XP_005258335.1:n.1809-98_1809-97delinsAG
XM_005258279.1:c.1758-98_1758-97delinsAG	XP_005258336.1:n.1758-98_1758-97delinsAG
XM_006722479.2:c.1809-98_1809-97delinsAG	XP_006722542.1:n.1809-98_1809-97delinsAG
XM_011526015.1:c.1344-98_1344-97delinsAG	XP_011524317.1:n.1344-98_1344-97delinsAG
XM_005258278.5:c.1809-98_1809-97delinsAG	XP_005258335.1:n.1809-98_1809-97delinsAG
XM_005258279.2:c.1758-98_1758-97delinsAG	XP_005258336.1:n.1758-98_1758-97delinsAG
XM_006722479.3:c.1809-98_1809-97delinsAG	XP_006722542.1:n.1809-98_1809-97delinsAG
XM_017025784.1:c.1809-98_1809-97delinsAG	XP_016881273.1:n.1809-98_1809-97delinsAG
XM_017025785.1:c.1809-98_1809-97delinsAG	XP_016881274.1:n.1809-98_1809-97delinsAG
XM_017025786.1:c.1758-98_1758-97delinsAG	XP_016881275.1:n.1758-98_1758-97delinsAG
XM_017025787.1:c.1758-98_1758-97delinsAG	XP_016881276.1:n.1758-98_1758-97delinsAG
NM_000271.5:c.1758-98_1758-97delinsAG MANE Select	NP_000262.2:n.1758-98_1758-97delinsAG