Canonical Allele Identifier: CA2641272635

Gene: NPC1

Linked Data

• gnomAD v4: 18-23539257-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539259_23539260dup , CM000680.2:g.23539259_23539260dup	GRCh38
NC_000018.9:g.21119223_21119224dup , CM000680.1:g.21119223_21119224dup	GRCh37
NC_000018.8:g.19373221_19373222dup	NCBI36
NG_012795.1:g.52359_52360dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.2911+96_2911+97dup MANE Select	ENSP00000269228.4:n.2911+96_2911+97dup
ENST00000269228.9:c.2911+96_2911+97dup	ENSP00000269228.4:n.2911+96_2911+97dup
ENST00000591051.1:c.1989+96_1989+97dup
ENST00000591075.1:n.544+96_544+97dup
NM_000271.4:c.2911+96_2911+97dup	NP_000262.2:n.2911+96_2911+97dup
XM_005258277.1:c.2962+96_2962+97dup	XP_005258334.1:n.2962+96_2962+97dup
XM_005258278.3:c.2962+96_2962+97dup	XP_005258335.1:n.2962+96_2962+97dup
XM_005258279.1:c.2911+96_2911+97dup	XP_005258336.1:n.2911+96_2911+97dup
XM_006722479.2:c.2962+96_2962+97dup	XP_006722542.1:n.2962+96_2962+97dup
XM_011526015.1:c.2497+96_2497+97dup	XP_011524317.1:n.2497+96_2497+97dup
XM_005258278.5:c.2962+96_2962+97dup	XP_005258335.1:n.2962+96_2962+97dup
XM_005258279.2:c.2911+96_2911+97dup	XP_005258336.1:n.2911+96_2911+97dup
XM_006722479.3:c.2962+96_2962+97dup	XP_006722542.1:n.2962+96_2962+97dup
XM_017025784.1:c.2962+96_2962+97dup	XP_016881273.1:n.2962+96_2962+97dup
XM_017025785.1:c.2962+96_2962+97dup	XP_016881274.1:n.2962+96_2962+97dup
XM_017025786.1:c.2911+96_2911+97dup	XP_016881275.1:n.2911+96_2911+97dup
XM_017025787.1:c.2911+96_2911+97dup	XP_016881276.1:n.2911+96_2911+97dup
NM_000271.5:c.2911+96_2911+97dup MANE Select	NP_000262.2:n.2911+96_2911+97dup