Canonical Allele Identifier: CA8912963

Gene: NPC1

Linked Data

• dbSNP Id: rs765272434
• ExAC: 18:21119482 CT / C
• gnomAD v2: 18-21119482-CT-C
• gnomAD v4: 18-23539518-CT-C
• MyVariant Identifiers: chr18:g.21119483del (hg19) ; chr18:g.23539519del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539521del , CM000680.2:g.23539521del	GRCh38
NC_000018.9:g.21119485del , CM000680.1:g.21119485del	GRCh37
NC_000018.8:g.19373483del	NCBI36
NG_012795.1:g.52099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2796-49del MANE Select	ENSP00000269228.4:n.2796-49del
ENST00000269228.9:c.2796-49del	ENSP00000269228.4:n.2796-49del
ENST00000591051.1:c.1874-49del
ENST00000591075.1:n.380del
NM_000271.4:c.2796-49del	NP_000262.2:n.2796-49del
XM_005258277.1:c.2847-49del	XP_005258334.1:n.2847-49del
XM_005258278.3:c.2847-49del	XP_005258335.1:n.2847-49del
XM_005258279.1:c.2796-49del	XP_005258336.1:n.2796-49del
XM_006722479.2:c.2847-49del	XP_006722542.1:n.2847-49del
XM_011526015.1:c.2382-49del	XP_011524317.1:n.2382-49del
XM_005258278.5:c.2847-49del	XP_005258335.1:n.2847-49del
XM_005258279.2:c.2796-49del	XP_005258336.1:n.2796-49del
XM_006722479.3:c.2847-49del	XP_006722542.1:n.2847-49del
XM_017025784.1:c.2847-49del	XP_016881273.1:n.2847-49del
XM_017025785.1:c.2847-49del	XP_016881274.1:n.2847-49del
XM_017025786.1:c.2796-49del	XP_016881275.1:n.2796-49del
XM_017025787.1:c.2796-49del	XP_016881276.1:n.2796-49del
NM_000271.5:c.2796-49del MANE Select	NP_000262.2:n.2796-49del