Canonical Allele Identifier: CA988384066

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1050159
• ClinVar RCV Id: RCV001357132
• dbSNP Id: rs2058767020
• gnomAD v3: 18-23544952-CGG-C
• gnomAD v4: 18-23544952-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544953_23544954del , CM000680.2:g.23544953_23544954del	GRCh38
NC_000018.9:g.21124917_21124918del , CM000680.1:g.21124917_21124918del	GRCh37
NC_000018.8:g.19378915_19378916del	NCBI36
NG_012795.1:g.46664_46665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1947+6_1947+7del MANE Select	ENSP00000269228.4:n.1947+6_1947+7del
ENST00000269228.9:c.1947+6_1947+7del	ENSP00000269228.4:n.1947+6_1947+7del
ENST00000540608.5:n.1861+6_1861+7del
ENST00000591051.1:c.1025+6_1025+7del
NM_000271.4:c.1947+6_1947+7del	NP_000262.2:n.1947+6_1947+7del
XM_005258277.1:c.1998+6_1998+7del	XP_005258334.1:n.1998+6_1998+7del
XM_005258278.3:c.1998+6_1998+7del	XP_005258335.1:n.1998+6_1998+7del
XM_005258279.1:c.1947+6_1947+7del	XP_005258336.1:n.1947+6_1947+7del
XM_006722479.2:c.1998+6_1998+7del	XP_006722542.1:n.1998+6_1998+7del
XM_011526015.1:c.1533+6_1533+7del	XP_011524317.1:n.1533+6_1533+7del
XM_005258278.5:c.1998+6_1998+7del	XP_005258335.1:n.1998+6_1998+7del
XM_005258279.2:c.1947+6_1947+7del	XP_005258336.1:n.1947+6_1947+7del
XM_006722479.3:c.1998+6_1998+7del	XP_006722542.1:n.1998+6_1998+7del
XM_017025784.1:c.1998+6_1998+7del	XP_016881273.1:n.1998+6_1998+7del
XM_017025785.1:c.1998+6_1998+7del	XP_016881274.1:n.1998+6_1998+7del
XM_017025786.1:c.1947+6_1947+7del	XP_016881275.1:n.1947+6_1947+7del
XM_017025787.1:c.1947+6_1947+7del	XP_016881276.1:n.1947+6_1947+7del
NM_000271.5:c.1947+6_1947+7del MANE Select	NP_000262.2:n.1947+6_1947+7del