Canonical Allele Identifier: CA2695227251

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556364_23556365delinsGC , CM000680.2:g.23556364_23556365delinsGC	GRCh38
NC_000018.9:g.21136328_21136329delinsGC , CM000680.1:g.21136328_21136329delinsGC	GRCh37
NC_000018.8:g.19390326_19390327delinsGC	NCBI36
NG_012795.1:g.35253_35254delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1204_1205delinsGC MANE Select	ENSP00000269228.4:p.Phe402Ala
ENST00000269228.9:c.1204_1205delinsGC	ENSP00000269228.4:p.Phe402Ala
ENST00000540608.5:n.1118_1119delinsGC
ENST00000591051.1:c.486_487delinsGC
NM_000271.4:c.1204_1205delinsGC	NP_000262.2:p.Phe402Ala
XM_005258277.1:c.1255_1256delinsGC	XP_005258334.1:p.Phe419Ala
XM_005258278.3:c.1255_1256delinsGC	XP_005258335.1:p.Phe419Ala
XM_005258279.1:c.1204_1205delinsGC	XP_005258336.1:p.Phe402Ala
XM_006722479.2:c.1255_1256delinsGC	XP_006722542.1:p.Phe419Ala
XM_011526015.1:c.790_791delinsGC	XP_011524317.1:p.Phe264Ala
XM_005258278.5:c.1255_1256delinsGC	XP_005258335.1:p.Phe419Ala
XM_005258279.2:c.1204_1205delinsGC	XP_005258336.1:p.Phe402Ala
XM_006722479.3:c.1255_1256delinsGC	XP_006722542.1:p.Phe419Ala
XM_017025784.1:c.1255_1256delinsGC	XP_016881273.1:p.Phe419Ala
XM_017025785.1:c.1255_1256delinsGC	XP_016881274.1:p.Phe419Ala
XM_017025786.1:c.1204_1205delinsGC	XP_016881275.1:p.Phe402Ala
XM_017025787.1:c.1204_1205delinsGC	XP_016881276.1:p.Phe402Ala
NM_000271.5:c.1204_1205delinsGC MANE Select	NP_000262.2:p.Phe402Ala