Canonical Allele Identifier: CA919946944

Gene: NPC1

Linked Data

• dbSNP Id: rs1599027801

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23582361_23582373del , CM000680.2:g.23582361_23582373del	GRCh38
NC_000018.9:g.21162325_21162337del , CM000680.1:g.21162325_21162337del	GRCh37
NC_000018.8:g.19416323_19416335del	NCBI36
NG_012795.1:g.9248_9260del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.57+3917_57+3929del MANE Select	ENSP00000269228.4:n.57+3917_57+3929del
ENST00000269228.9:c.57+3917_57+3929del	ENSP00000269228.4:n.57+3917_57+3929del
ENST00000540608.5:n.201+3917_201+3929del
NM_000271.4:c.57+3917_57+3929del	NP_000262.2:n.57+3917_57+3929del
XM_005258277.1:c.57+3917_57+3929del	XP_005258334.1:n.57+3917_57+3929del
XM_005258278.3:c.57+3917_57+3929del	XP_005258335.1:n.57+3917_57+3929del
XM_005258279.1:c.57+3917_57+3929del	XP_005258336.1:n.57+3917_57+3929del
XM_006722479.2:c.57+3917_57+3929del	XP_006722542.1:n.57+3917_57+3929del
XM_005258278.5:c.57+3917_57+3929del	XP_005258335.1:n.57+3917_57+3929del
XM_005258279.2:c.57+3917_57+3929del	XP_005258336.1:n.57+3917_57+3929del
XM_006722479.3:c.57+3917_57+3929del	XP_006722542.1:n.57+3917_57+3929del
XM_017025784.1:c.57+3917_57+3929del	XP_016881273.1:n.57+3917_57+3929del
XM_017025785.1:c.57+3917_57+3929del	XP_016881274.1:n.57+3917_57+3929del
XM_017025786.1:c.57+3917_57+3929del	XP_016881275.1:n.57+3917_57+3929del
XM_017025787.1:c.57+3917_57+3929del	XP_016881276.1:n.57+3917_57+3929del
NM_000271.5:c.57+3917_57+3929del MANE Select	NP_000262.2:n.57+3917_57+3929del