Canonical Allele Identifier: CA297058526

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23543340_23543341insG , CM000680.2:g.23543340_23543341insG	GRCh38
NC_000018.9:g.21123304_21123305insG , CM000680.1:g.21123304_21123305insG	GRCh37
NC_000018.8:g.19377302_19377303insG	NCBI36
NG_012795.1:g.48277_48278insC

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.2245+114_2245+115insC MANE Select	NP_000262.2:n.2245+114_2245+115insC
ENST00000269228.10:c.2245+114_2245+115insC MANE Select	ENSP00000269228.4:n.2245+114_2245+115insC
NM_000271.4:c.2245+114_2245+115insC	NP_000262.2:n.2245+114_2245+115insC
ENST00000269228.9:c.2245+114_2245+115insC	ENSP00000269228.4:n.2245+114_2245+115insC
ENST00000540608.5:n.2159+114_2159+115insC
ENST00000591051.1:c.1323+114_1323+115insC
XM_005258277.1:c.2296+114_2296+115insC	XP_005258334.1:n.2296+114_2296+115insC
XM_005258278.3:c.2296+114_2296+115insC	XP_005258335.1:n.2296+114_2296+115insC
XM_005258278.5:c.2296+114_2296+115insC	XP_005258335.1:n.2296+114_2296+115insC
XM_005258279.1:c.2245+114_2245+115insC	XP_005258336.1:n.2245+114_2245+115insC
XM_005258279.2:c.2245+114_2245+115insC	XP_005258336.1:n.2245+114_2245+115insC
XM_006722479.2:c.2296+114_2296+115insC	XP_006722542.1:n.2296+114_2296+115insC
XM_006722479.3:c.2296+114_2296+115insC	XP_006722542.1:n.2296+114_2296+115insC
XM_011526015.1:c.1831+114_1831+115insC	XP_011524317.1:n.1831+114_1831+115insC
XM_017025784.1:c.2296+114_2296+115insC	XP_016881273.1:n.2296+114_2296+115insC
XM_017025785.1:c.2296+114_2296+115insC	XP_016881274.1:n.2296+114_2296+115insC
XM_017025786.1:c.2245+114_2245+115insC	XP_016881275.1:n.2245+114_2245+115insC
XM_017025787.1:c.2245+114_2245+115insC	XP_016881276.1:n.2245+114_2245+115insC