Canonical Allele Identifier: CA2576471007

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544953_23544954insCCCGG , CM000680.2:g.23544953_23544954insCCCGG	GRCh38
NC_000018.9:g.21124917_21124918insCCCGG , CM000680.1:g.21124917_21124918insCCCGG	GRCh37
NC_000018.8:g.19378915_19378916insCCCGG	NCBI36
NG_012795.1:g.46665_46666insCGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1947+7_1947+8insCGGGC MANE Select	ENSP00000269228.4:n.1947+7_1947+8insCGGGC
ENST00000269228.9:c.1947+7_1947+8insCGGGC	ENSP00000269228.4:n.1947+7_1947+8insCGGGC
ENST00000540608.5:n.1861+7_1861+8insCGGGC
ENST00000591051.1:c.1025+7_1025+8insCGGGC
NM_000271.4:c.1947+7_1947+8insCGGGC	NP_000262.2:n.1947+7_1947+8insCGGGC
XM_005258277.1:c.1998+7_1998+8insCGGGC	XP_005258334.1:n.1998+7_1998+8insCGGGC
XM_005258278.3:c.1998+7_1998+8insCGGGC	XP_005258335.1:n.1998+7_1998+8insCGGGC
XM_005258279.1:c.1947+7_1947+8insCGGGC	XP_005258336.1:n.1947+7_1947+8insCGGGC
XM_006722479.2:c.1998+7_1998+8insCGGGC	XP_006722542.1:n.1998+7_1998+8insCGGGC
XM_011526015.1:c.1533+7_1533+8insCGGGC	XP_011524317.1:n.1533+7_1533+8insCGGGC
XM_005258278.5:c.1998+7_1998+8insCGGGC	XP_005258335.1:n.1998+7_1998+8insCGGGC
XM_005258279.2:c.1947+7_1947+8insCGGGC	XP_005258336.1:n.1947+7_1947+8insCGGGC
XM_006722479.3:c.1998+7_1998+8insCGGGC	XP_006722542.1:n.1998+7_1998+8insCGGGC
XM_017025784.1:c.1998+7_1998+8insCGGGC	XP_016881273.1:n.1998+7_1998+8insCGGGC
XM_017025785.1:c.1998+7_1998+8insCGGGC	XP_016881274.1:n.1998+7_1998+8insCGGGC
XM_017025786.1:c.1947+7_1947+8insCGGGC	XP_016881275.1:n.1947+7_1947+8insCGGGC
XM_017025787.1:c.1947+7_1947+8insCGGGC	XP_016881276.1:n.1947+7_1947+8insCGGGC
NM_000271.5:c.1947+7_1947+8insCGGGC MANE Select	NP_000262.2:n.1947+7_1947+8insCGGGC