Canonical Allele Identifier: CA2290166047

Gene: NPC1

Linked Data

• dbSNP Id: rs2058692231
• gnomAD v4: 18-23540100-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23540102del , CM000680.2:g.23540102del	GRCh38
NC_000018.9:g.21120066del , CM000680.1:g.21120066del	GRCh37
NC_000018.8:g.19374064del	NCBI36
NG_012795.1:g.51517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2605-100del MANE Select	ENSP00000269228.4:n.2605-100del
ENST00000269228.9:c.2605-100del	ENSP00000269228.4:n.2605-100del
ENST00000540608.5:n.2519-100del
ENST00000586718.1:n.396-100del
ENST00000591051.1:c.1683-100del
NM_000271.4:c.2605-100del	NP_000262.2:n.2605-100del
XM_005258277.1:c.2656-100del	XP_005258334.1:n.2656-100del
XM_005258278.3:c.2656-100del	XP_005258335.1:n.2656-100del
XM_005258279.1:c.2605-100del	XP_005258336.1:n.2605-100del
XM_006722479.2:c.2656-100del	XP_006722542.1:n.2656-100del
XM_011526015.1:c.2191-100del	XP_011524317.1:n.2191-100del
XM_005258278.5:c.2656-100del	XP_005258335.1:n.2656-100del
XM_005258279.2:c.2605-100del	XP_005258336.1:n.2605-100del
XM_006722479.3:c.2656-100del	XP_006722542.1:n.2656-100del
XM_017025784.1:c.2656-100del	XP_016881273.1:n.2656-100del
XM_017025785.1:c.2656-100del	XP_016881274.1:n.2656-100del
XM_017025786.1:c.2605-100del	XP_016881275.1:n.2605-100del
XM_017025787.1:c.2605-100del	XP_016881276.1:n.2605-100del
NM_000271.5:c.2605-100del MANE Select	NP_000262.2:n.2605-100del