Canonical Allele Identifier: CA2290168370

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544986_23544987delinsGC , CM000680.2:g.23544986_23544987delinsGC	GRCh38
NC_000018.9:g.21124950_21124951delinsGC , CM000680.1:g.21124950_21124951delinsGC	GRCh37
NC_000018.8:g.19378948_19378949delinsGC	NCBI36
NG_012795.1:g.46631_46632delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1920_1921delinsGC MANE Select	ENSP00000269228.4:p.Gly640=
ENST00000269228.9:c.1920_1921delinsGC	ENSP00000269228.4:p.Gly640=
ENST00000540608.5:n.1834_1835delinsGC
ENST00000591051.1:c.998_999delinsGC
NM_000271.4:c.1920_1921delinsGC	NP_000262.2:p.Gly640=
XM_005258277.1:c.1971_1972delinsGC	XP_005258334.1:p.Gly657=
XM_005258278.3:c.1971_1972delinsGC	XP_005258335.1:p.Gly657=
XM_005258279.1:c.1920_1921delinsGC	XP_005258336.1:p.Gly640=
XM_006722479.2:c.1971_1972delinsGC	XP_006722542.1:p.Gly657=
XM_011526015.1:c.1506_1507delinsGC	XP_011524317.1:p.Gly502=
XM_005258278.5:c.1971_1972delinsGC	XP_005258335.1:p.Gly657=
XM_005258279.2:c.1920_1921delinsGC	XP_005258336.1:p.Gly640=
XM_006722479.3:c.1971_1972delinsGC	XP_006722542.1:p.Gly657=
XM_017025784.1:c.1971_1972delinsGC	XP_016881273.1:p.Gly657=
XM_017025785.1:c.1971_1972delinsGC	XP_016881274.1:p.Gly657=
XM_017025786.1:c.1920_1921delinsGC	XP_016881275.1:p.Gly640=
XM_017025787.1:c.1920_1921delinsGC	XP_016881276.1:p.Gly640=
NM_000271.5:c.1920_1921delinsGC MANE Select	NP_000262.2:p.Gly640=