Canonical Allele Identifier: CA988381998

Gene: NPC1

Linked Data

• dbSNP Id: rs2058683161
• gnomAD v3: 18-23539582-CAA-C
• gnomAD v4: 18-23539582-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539585_23539586del , CM000680.2:g.23539585_23539586del	GRCh38
NC_000018.9:g.21119549_21119550del , CM000680.1:g.21119549_21119550del	GRCh37
NC_000018.8:g.19373547_19373548del	NCBI36
NG_012795.1:g.52034_52035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2796-114_2796-113del MANE Select	ENSP00000269228.4:n.2796-114_2796-113del
ENST00000269228.9:c.2796-114_2796-113del	ENSP00000269228.4:n.2796-114_2796-113del
ENST00000591051.1:c.1874-114_1874-113del
ENST00000591075.1:n.315_316del
NM_000271.4:c.2796-114_2796-113del	NP_000262.2:n.2796-114_2796-113del
XM_005258277.1:c.2847-114_2847-113del	XP_005258334.1:n.2847-114_2847-113del
XM_005258278.3:c.2847-114_2847-113del	XP_005258335.1:n.2847-114_2847-113del
XM_005258279.1:c.2796-114_2796-113del	XP_005258336.1:n.2796-114_2796-113del
XM_006722479.2:c.2847-114_2847-113del	XP_006722542.1:n.2847-114_2847-113del
XM_011526015.1:c.2382-114_2382-113del	XP_011524317.1:n.2382-114_2382-113del
XM_005258278.5:c.2847-114_2847-113del	XP_005258335.1:n.2847-114_2847-113del
XM_005258279.2:c.2796-114_2796-113del	XP_005258336.1:n.2796-114_2796-113del
XM_006722479.3:c.2847-114_2847-113del	XP_006722542.1:n.2847-114_2847-113del
XM_017025784.1:c.2847-114_2847-113del	XP_016881273.1:n.2847-114_2847-113del
XM_017025785.1:c.2847-114_2847-113del	XP_016881274.1:n.2847-114_2847-113del
XM_017025786.1:c.2796-114_2796-113del	XP_016881275.1:n.2796-114_2796-113del
XM_017025787.1:c.2796-114_2796-113del	XP_016881276.1:n.2796-114_2796-113del
NM_000271.5:c.2796-114_2796-113del MANE Select	NP_000262.2:n.2796-114_2796-113del