Canonical Allele Identifier: CA2290165780

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539507_23539508delinsAG , CM000680.2:g.23539507_23539508delinsAG	GRCh38
NC_000018.9:g.21119471_21119472delinsAG , CM000680.1:g.21119471_21119472delinsAG	GRCh37
NC_000018.8:g.19373469_19373470delinsAG	NCBI36
NG_012795.1:g.52110_52111delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2796-38_2796-37delinsCT MANE Select	ENSP00000269228.4:n.2796-38_2796-37delinsCT
ENST00000269228.9:c.2796-38_2796-37delinsCT	ENSP00000269228.4:n.2796-38_2796-37delinsCT
ENST00000591051.1:c.1874-38_1874-37delinsCT
ENST00000591075.1:n.391_392delinsCT
NM_000271.4:c.2796-38_2796-37delinsCT	NP_000262.2:n.2796-38_2796-37delinsCT
XM_005258277.1:c.2847-38_2847-37delinsCT	XP_005258334.1:n.2847-38_2847-37delinsCT
XM_005258278.3:c.2847-38_2847-37delinsCT	XP_005258335.1:n.2847-38_2847-37delinsCT
XM_005258279.1:c.2796-38_2796-37delinsCT	XP_005258336.1:n.2796-38_2796-37delinsCT
XM_006722479.2:c.2847-38_2847-37delinsCT	XP_006722542.1:n.2847-38_2847-37delinsCT
XM_011526015.1:c.2382-38_2382-37delinsCT	XP_011524317.1:n.2382-38_2382-37delinsCT
XM_005258278.5:c.2847-38_2847-37delinsCT	XP_005258335.1:n.2847-38_2847-37delinsCT
XM_005258279.2:c.2796-38_2796-37delinsCT	XP_005258336.1:n.2796-38_2796-37delinsCT
XM_006722479.3:c.2847-38_2847-37delinsCT	XP_006722542.1:n.2847-38_2847-37delinsCT
XM_017025784.1:c.2847-38_2847-37delinsCT	XP_016881273.1:n.2847-38_2847-37delinsCT
XM_017025785.1:c.2847-38_2847-37delinsCT	XP_016881274.1:n.2847-38_2847-37delinsCT
XM_017025786.1:c.2796-38_2796-37delinsCT	XP_016881275.1:n.2796-38_2796-37delinsCT
XM_017025787.1:c.2796-38_2796-37delinsCT	XP_016881276.1:n.2796-38_2796-37delinsCT
NM_000271.5:c.2796-38_2796-37delinsCT MANE Select	NP_000262.2:n.2796-38_2796-37delinsCT