Canonical Allele Identifier: CA2290173088

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23554799_23554802delinsAAAG , CM000680.2:g.23554799_23554802delinsAAAG	GRCh38
NC_000018.9:g.21134763_21134766delinsAAAG , CM000680.1:g.21134763_21134766delinsAAAG	GRCh37
NC_000018.8:g.19388761_19388764delinsAAAG	NCBI36
NG_012795.1:g.36816_36819delinsCTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1509_1512delinsCTTT MANE Select	ENSP00000269228.4:p.Phe503=
ENST00000269228.9:c.1509_1512delinsCTTT	ENSP00000269228.4:p.Phe503=
ENST00000540608.5:n.1423_1426delinsCTTT
ENST00000590301.1:n.184_187delinsCTTT
ENST00000591051.1:c.791_794delinsCTTT
NM_000271.4:c.1509_1512delinsCTTT	NP_000262.2:p.Phe503=
XM_005258277.1:c.1560_1563delinsCTTT	XP_005258334.1:p.Phe520=
XM_005258278.3:c.1560_1563delinsCTTT	XP_005258335.1:p.Phe520=
XM_005258279.1:c.1509_1512delinsCTTT	XP_005258336.1:p.Phe503=
XM_006722479.2:c.1560_1563delinsCTTT	XP_006722542.1:p.Phe520=
XM_011526015.1:c.1095_1098delinsCTTT	XP_011524317.1:p.Phe365=
XM_005258278.5:c.1560_1563delinsCTTT	XP_005258335.1:p.Phe520=
XM_005258279.2:c.1509_1512delinsCTTT	XP_005258336.1:p.Phe503=
XM_006722479.3:c.1560_1563delinsCTTT	XP_006722542.1:p.Phe520=
XM_017025784.1:c.1560_1563delinsCTTT	XP_016881273.1:p.Phe520=
XM_017025785.1:c.1560_1563delinsCTTT	XP_016881274.1:p.Phe520=
XM_017025786.1:c.1509_1512delinsCTTT	XP_016881275.1:p.Phe503=
XM_017025787.1:c.1509_1512delinsCTTT	XP_016881276.1:p.Phe503=
NM_000271.5:c.1509_1512delinsCTTT MANE Select	NP_000262.2:p.Phe503=