Canonical Allele Identifier: CA8913023

Gene: NPC1

Linked Data

• dbSNP Id: rs751378131
• ExAC: 18:21120003 ACT / A
• gnomAD v2: 18-21120003-ACT-A
• gnomAD v4: 18-23540039-ACT-A
• MyVariant Identifiers: chr18:g.21120004_21120005del (hg19) ; chr18:g.23540040_23540041del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23540042_23540043del , CM000680.2:g.23540042_23540043del	GRCh38
NC_000018.9:g.21120006_21120007del , CM000680.1:g.21120006_21120007del	GRCh37
NC_000018.8:g.19374004_19374005del	NCBI36
NG_012795.1:g.51577_51578del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2605-40_2605-39del MANE Select	ENSP00000269228.4:n.2605-40_2605-39del
ENST00000269228.9:c.2605-40_2605-39del	ENSP00000269228.4:n.2605-40_2605-39del
ENST00000540608.5:n.2519-40_2519-39del
ENST00000586718.1:n.396-40_396-39del
ENST00000591051.1:c.1683-40_1683-39del
NM_000271.4:c.2605-40_2605-39del	NP_000262.2:n.2605-40_2605-39del
XM_005258277.1:c.2656-40_2656-39del	XP_005258334.1:n.2656-40_2656-39del
XM_005258278.3:c.2656-40_2656-39del	XP_005258335.1:n.2656-40_2656-39del
XM_005258279.1:c.2605-40_2605-39del	XP_005258336.1:n.2605-40_2605-39del
XM_006722479.2:c.2656-40_2656-39del	XP_006722542.1:n.2656-40_2656-39del
XM_011526015.1:c.2191-40_2191-39del	XP_011524317.1:n.2191-40_2191-39del
XM_005258278.5:c.2656-40_2656-39del	XP_005258335.1:n.2656-40_2656-39del
XM_005258279.2:c.2605-40_2605-39del	XP_005258336.1:n.2605-40_2605-39del
XM_006722479.3:c.2656-40_2656-39del	XP_006722542.1:n.2656-40_2656-39del
XM_017025784.1:c.2656-40_2656-39del	XP_016881273.1:n.2656-40_2656-39del
XM_017025785.1:c.2656-40_2656-39del	XP_016881274.1:n.2656-40_2656-39del
XM_017025786.1:c.2605-40_2605-39del	XP_016881275.1:n.2605-40_2605-39del
XM_017025787.1:c.2605-40_2605-39del	XP_016881276.1:n.2605-40_2605-39del
NM_000271.5:c.2605-40_2605-39del MANE Select	NP_000262.2:n.2605-40_2605-39del