Canonical Allele Identifier: CA2290186997

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23582001_23582005delinsCTACT , CM000680.2:g.23582001_23582005delinsCTACT	GRCh38
NC_000018.9:g.21161965_21161969delinsCTACT , CM000680.1:g.21161965_21161969delinsCTACT	GRCh37
NC_000018.8:g.19415963_19415967delinsCTACT	NCBI36
NG_012795.1:g.9613_9617delinsAGTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.57+4282_57+4286delinsAGTAG MANE Select	ENSP00000269228.4:n.57+4282_57+4286delinsAGTAG
ENST00000269228.9:c.57+4282_57+4286delinsAGTAG	ENSP00000269228.4:n.57+4282_57+4286delinsAGTAG
ENST00000540608.5:n.201+4282_201+4286delinsAGTAG
NM_000271.4:c.57+4282_57+4286delinsAGTAG	NP_000262.2:n.57+4282_57+4286delinsAGTAG
XM_005258277.1:c.57+4282_57+4286delinsAGTAG	XP_005258334.1:n.57+4282_57+4286delinsAGTAG
XM_005258278.3:c.57+4282_57+4286delinsAGTAG	XP_005258335.1:n.57+4282_57+4286delinsAGTAG
XM_005258279.1:c.57+4282_57+4286delinsAGTAG	XP_005258336.1:n.57+4282_57+4286delinsAGTAG
XM_006722479.2:c.57+4282_57+4286delinsAGTAG	XP_006722542.1:n.57+4282_57+4286delinsAGTAG
XM_005258278.5:c.57+4282_57+4286delinsAGTAG	XP_005258335.1:n.57+4282_57+4286delinsAGTAG
XM_005258279.2:c.57+4282_57+4286delinsAGTAG	XP_005258336.1:n.57+4282_57+4286delinsAGTAG
XM_006722479.3:c.57+4282_57+4286delinsAGTAG	XP_006722542.1:n.57+4282_57+4286delinsAGTAG
XM_017025784.1:c.57+4282_57+4286delinsAGTAG	XP_016881273.1:n.57+4282_57+4286delinsAGTAG
XM_017025785.1:c.57+4282_57+4286delinsAGTAG	XP_016881274.1:n.57+4282_57+4286delinsAGTAG
XM_017025786.1:c.57+4282_57+4286delinsAGTAG	XP_016881275.1:n.57+4282_57+4286delinsAGTAG
XM_017025787.1:c.57+4282_57+4286delinsAGTAG	XP_016881276.1:n.57+4282_57+4286delinsAGTAG
NM_000271.5:c.57+4282_57+4286delinsAGTAG MANE Select	NP_000262.2:n.57+4282_57+4286delinsAGTAG