Canonical Allele Identifier: CA297058510

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23543333_23543334insG , CM000680.2:g.23543333_23543334insG	GRCh38
NC_000018.9:g.21123297_21123298insG , CM000680.1:g.21123297_21123298insG	GRCh37
NC_000018.8:g.19377295_19377296insG	NCBI36
NG_012795.1:g.48284_48285insC

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.2245+121_2245+122insC MANE Select	NP_000262.2:n.2245+121_2245+122insC
ENST00000269228.10:c.2245+121_2245+122insC MANE Select	ENSP00000269228.4:n.2245+121_2245+122insC
NM_000271.4:c.2245+121_2245+122insC	NP_000262.2:n.2245+121_2245+122insC
ENST00000269228.9:c.2245+121_2245+122insC	ENSP00000269228.4:n.2245+121_2245+122insC
ENST00000540608.5:n.2159+121_2159+122insC
ENST00000591051.1:c.1323+121_1323+122insC
XM_005258277.1:c.2296+121_2296+122insC	XP_005258334.1:n.2296+121_2296+122insC
XM_005258278.3:c.2296+121_2296+122insC	XP_005258335.1:n.2296+121_2296+122insC
XM_005258278.5:c.2296+121_2296+122insC	XP_005258335.1:n.2296+121_2296+122insC
XM_005258279.1:c.2245+121_2245+122insC	XP_005258336.1:n.2245+121_2245+122insC
XM_005258279.2:c.2245+121_2245+122insC	XP_005258336.1:n.2245+121_2245+122insC
XM_006722479.2:c.2296+121_2296+122insC	XP_006722542.1:n.2296+121_2296+122insC
XM_006722479.3:c.2296+121_2296+122insC	XP_006722542.1:n.2296+121_2296+122insC
XM_011526015.1:c.1831+121_1831+122insC	XP_011524317.1:n.1831+121_1831+122insC
XM_017025784.1:c.2296+121_2296+122insC	XP_016881273.1:n.2296+121_2296+122insC
XM_017025785.1:c.2296+121_2296+122insC	XP_016881274.1:n.2296+121_2296+122insC
XM_017025786.1:c.2245+121_2245+122insC	XP_016881275.1:n.2245+121_2245+122insC
XM_017025787.1:c.2245+121_2245+122insC	XP_016881276.1:n.2245+121_2245+122insC