Canonical Allele Identifier: CA2695227330

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23545075_23545080del , CM000680.2:g.23545075_23545080del	GRCh38
NC_000018.9:g.21125039_21125044del , CM000680.1:g.21125039_21125044del	GRCh37
NC_000018.8:g.19379037_19379042del	NCBI36
NG_012795.1:g.46542_46547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1831_1836del MANE Select	ENSP00000269228.4:p.Asp611_Glu612del
ENST00000269228.9:c.1831_1836del	ENSP00000269228.4:p.Asp611_Glu612del
ENST00000540608.5:n.1745_1750del
ENST00000591051.1:c.909_914del
NM_000271.4:c.1831_1836del	NP_000262.2:p.Asp611_Glu612del
XM_005258277.1:c.1882_1887del	XP_005258334.1:p.Asp628_Glu629del
XM_005258278.3:c.1882_1887del	XP_005258335.1:p.Asp628_Glu629del
XM_005258279.1:c.1831_1836del	XP_005258336.1:p.Asp611_Glu612del
XM_006722479.2:c.1882_1887del	XP_006722542.1:p.Asp628_Glu629del
XM_011526015.1:c.1417_1422del	XP_011524317.1:p.Asp473_Glu474del
XM_005258278.5:c.1882_1887del	XP_005258335.1:p.Asp628_Glu629del
XM_005258279.2:c.1831_1836del	XP_005258336.1:p.Asp611_Glu612del
XM_006722479.3:c.1882_1887del	XP_006722542.1:p.Asp628_Glu629del
XM_017025784.1:c.1882_1887del	XP_016881273.1:p.Asp628_Glu629del
XM_017025785.1:c.1882_1887del	XP_016881274.1:p.Asp628_Glu629del
XM_017025786.1:c.1831_1836del	XP_016881275.1:p.Asp611_Glu612del
XM_017025787.1:c.1831_1836del	XP_016881276.1:p.Asp611_Glu612del
NM_000271.5:c.1831_1836del MANE Select	NP_000262.2:p.Asp611_Glu612del