Canonical Allele Identifier: CA8913485

Gene: NPC1

Linked Data

• dbSNP Id: rs780266809
• ExAC: 18:21134979 CA / C
• gnomAD v2: 18-21134979-CA-C
• gnomAD v4: 18-23555015-CA-C
• MyVariant Identifiers: chr18:g.21134980del (hg19) ; chr18:g.23555016del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23555016del , CM000680.2:g.23555016del	GRCh38
NC_000018.9:g.21134980del , CM000680.1:g.21134980del	GRCh37
NC_000018.8:g.19388978del	NCBI36
NG_012795.1:g.36602del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1327-32del MANE Select	ENSP00000269228.4:n.1327-32del
ENST00000269228.9:c.1327-32del	ENSP00000269228.4:n.1327-32del
ENST00000540608.5:n.1241-32del
ENST00000591051.1:c.609-32del
NM_000271.4:c.1327-32del	NP_000262.2:n.1327-32del
XM_005258277.1:c.1378-32del	XP_005258334.1:n.1378-32del
XM_005258278.3:c.1378-32del	XP_005258335.1:n.1378-32del
XM_005258279.1:c.1327-32del	XP_005258336.1:n.1327-32del
XM_006722479.2:c.1378-32del	XP_006722542.1:n.1378-32del
XM_011526015.1:c.913-32del	XP_011524317.1:n.913-32del
XM_005258278.5:c.1378-32del	XP_005258335.1:n.1378-32del
XM_005258279.2:c.1327-32del	XP_005258336.1:n.1327-32del
XM_006722479.3:c.1378-32del	XP_006722542.1:n.1378-32del
XM_017025784.1:c.1378-32del	XP_016881273.1:n.1378-32del
XM_017025785.1:c.1378-32del	XP_016881274.1:n.1378-32del
XM_017025786.1:c.1327-32del	XP_016881275.1:n.1327-32del
XM_017025787.1:c.1327-32del	XP_016881276.1:n.1327-32del
NM_000271.5:c.1327-32del MANE Select	NP_000262.2:n.1327-32del