Canonical Allele Identifier: CA777712295

Gene: NPC1

Linked Data

• dbSNP Id: rs1417509195
• gnomAD v4: 18-23532386-CAGG-C
• MyVariant Identifiers: chr18:g.21112351_21112353del (hg19) ; chr18:g.23532387_23532389del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532389_23532391del , CM000680.2:g.23532389_23532391del	GRCh38
NC_000018.9:g.21112353_21112355del , CM000680.1:g.21112353_21112355del	GRCh37
NC_000018.8:g.19366351_19366353del	NCBI36
NG_012795.1:g.59229_59231del
NG_033119.1:g.33920_33922del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3755-105_3755-103del MANE Select	ENSP00000269228.4:n.3755-105_3755-103del
ENST00000269228.9:c.3755-105_3755-103del	ENSP00000269228.4:n.3755-105_3755-103del
ENST00000586150.5:c.509+966_509+968del
ENST00000588867.1:n.1438-105_1438-103del
ENST00000590723.5:c.163+966_163+968del	ENSP00000464755.1:n.163+966_163+968del
ENST00000591051.1:c.2833-105_2833-103del
ENST00000591107.6:c.431+966_431+968del
ENST00000593280.2:c.86+966_86+968del
NM_000271.4:c.3755-105_3755-103del	NP_000262.2:n.3755-105_3755-103del
XM_005258277.1:c.3805+966_3805+968del	XP_005258334.1:n.3805+966_3805+968del
XM_005258278.3:c.3806-105_3806-103del	XP_005258335.1:n.3806-105_3806-103del
XM_005258279.1:c.3754+966_3754+968del	XP_005258336.1:n.3754+966_3754+968del
XM_006722479.2:c.3805+966_3805+968del	XP_006722542.1:n.3805+966_3805+968del
XM_011526015.1:c.3340+966_3340+968del	XP_011524317.1:n.3340+966_3340+968del
XM_005258278.5:c.3806-105_3806-103del	XP_005258335.1:n.3806-105_3806-103del
XM_005258279.2:c.3754+966_3754+968del	XP_005258336.1:n.3754+966_3754+968del
XM_006722479.3:c.3805+966_3805+968del	XP_006722542.1:n.3805+966_3805+968del
XM_017025784.1:c.3805+966_3805+968del	XP_016881273.1:n.3805+966_3805+968del
XM_017025785.1:c.3805+966_3805+968del	XP_016881274.1:n.3805+966_3805+968del
XM_017025786.1:c.3754+966_3754+968del	XP_016881275.1:n.3754+966_3754+968del
XM_017025787.1:c.3754+966_3754+968del	XP_016881276.1:n.3754+966_3754+968del
NM_000271.5:c.3755-105_3755-103del MANE Select	NP_000262.2:n.3755-105_3755-103del