Canonical Allele Identifier: CA2641276199

Gene: NPC1

Linked Data

• gnomAD v4: 18-23532399-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532402_23532403del , CM000680.2:g.23532402_23532403del	GRCh38
NC_000018.9:g.21112366_21112367del , CM000680.1:g.21112366_21112367del	GRCh37
NC_000018.8:g.19366364_19366365del	NCBI36
NG_012795.1:g.59217_59218del
NG_033119.1:g.33933_33934del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3755-117_3755-116del MANE Select	ENSP00000269228.4:n.3755-117_3755-116del
ENST00000269228.9:c.3755-117_3755-116del	ENSP00000269228.4:n.3755-117_3755-116del
ENST00000586150.5:c.509+954_509+955del
ENST00000588867.1:n.1438-117_1438-116del
ENST00000590723.5:c.163+954_163+955del	ENSP00000464755.1:n.163+954_163+955del
ENST00000591051.1:c.2833-117_2833-116del
ENST00000591107.6:c.431+954_431+955del
ENST00000593280.2:c.86+954_86+955del
NM_000271.4:c.3755-117_3755-116del	NP_000262.2:n.3755-117_3755-116del
XM_005258277.1:c.3805+954_3805+955del	XP_005258334.1:n.3805+954_3805+955del
XM_005258278.3:c.3806-117_3806-116del	XP_005258335.1:n.3806-117_3806-116del
XM_005258279.1:c.3754+954_3754+955del	XP_005258336.1:n.3754+954_3754+955del
XM_006722479.2:c.3805+954_3805+955del	XP_006722542.1:n.3805+954_3805+955del
XM_011526015.1:c.3340+954_3340+955del	XP_011524317.1:n.3340+954_3340+955del
XM_005258278.5:c.3806-117_3806-116del	XP_005258335.1:n.3806-117_3806-116del
XM_005258279.2:c.3754+954_3754+955del	XP_005258336.1:n.3754+954_3754+955del
XM_006722479.3:c.3805+954_3805+955del	XP_006722542.1:n.3805+954_3805+955del
XM_017025784.1:c.3805+954_3805+955del	XP_016881273.1:n.3805+954_3805+955del
XM_017025785.1:c.3805+954_3805+955del	XP_016881274.1:n.3805+954_3805+955del
XM_017025786.1:c.3754+954_3754+955del	XP_016881275.1:n.3754+954_3754+955del
XM_017025787.1:c.3754+954_3754+955del	XP_016881276.1:n.3754+954_3754+955del
NM_000271.5:c.3755-117_3755-116del MANE Select	NP_000262.2:n.3755-117_3755-116del