Canonical Allele Identifier: CA2290163915

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535620_23535621delinsAT , CM000680.2:g.23535620_23535621delinsAT	GRCh38
NC_000018.9:g.21115584_21115585delinsAT , CM000680.1:g.21115584_21115585delinsAT	GRCh37
NC_000018.8:g.19369582_19369583delinsAT	NCBI36
NG_012795.1:g.55997_55998delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3325_3326delinsAT MANE Select	ENSP00000269228.4:p.Ile1109=
ENST00000269228.9:c.3325_3326delinsAT	ENSP00000269228.4:p.Ile1109=
ENST00000586150.5:c.80_81delinsAT
ENST00000588867.1:n.80_81delinsAT
ENST00000591051.1:c.2403_2404delinsAT
ENST00000591107.6:c.2_3delinsAT
NM_000271.4:c.3325_3326delinsAT	NP_000262.2:p.Ile1109=
XM_005258277.1:c.3376_3377delinsAT	XP_005258334.1:p.Ile1126=
XM_005258278.3:c.3376_3377delinsAT	XP_005258335.1:p.Ile1126=
XM_005258279.1:c.3325_3326delinsAT	XP_005258336.1:p.Ile1109=
XM_006722479.2:c.3376_3377delinsAT	XP_006722542.1:p.Ile1126=
XM_011526015.1:c.2911_2912delinsAT	XP_011524317.1:p.Ile971=
XM_005258278.5:c.3376_3377delinsAT	XP_005258335.1:p.Ile1126=
XM_005258279.2:c.3325_3326delinsAT	XP_005258336.1:p.Ile1109=
XM_006722479.3:c.3376_3377delinsAT	XP_006722542.1:p.Ile1126=
XM_017025784.1:c.3376_3377delinsAT	XP_016881273.1:p.Ile1126=
XM_017025785.1:c.3376_3377delinsAT	XP_016881274.1:p.Ile1126=
XM_017025786.1:c.3325_3326delinsAT	XP_016881275.1:p.Ile1109=
XM_017025787.1:c.3325_3326delinsAT	XP_016881276.1:p.Ile1109=
NM_000271.5:c.3325_3326delinsAT MANE Select	NP_000262.2:p.Ile1109=