Canonical Allele Identifier: CA2576470392

Gene: NPC1

Linked Data

• gnomAD v4: 18-23532329-AGCTAGTTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532333_23532340del , CM000680.2:g.23532333_23532340del	GRCh38
NC_000018.9:g.21112297_21112304del , CM000680.1:g.21112297_21112304del	GRCh37
NC_000018.8:g.19366295_19366302del	NCBI36
NG_012795.1:g.59281_59288del
NG_033119.1:g.33864_33871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3755-53_3755-46del MANE Select	ENSP00000269228.4:n.3755-53_3755-46del
ENST00000269228.9:c.3755-53_3755-46del	ENSP00000269228.4:n.3755-53_3755-46del
ENST00000586150.5:c.509+1018_509+1025del
ENST00000588867.1:n.1438-53_1438-46del
ENST00000590723.5:c.163+1018_163+1025del	ENSP00000464755.1:n.163+1018_163+1025del
ENST00000591051.1:c.2833-53_2833-46del
ENST00000591107.6:c.431+1018_431+1025del
ENST00000593280.2:c.86+1018_86+1025del
NM_000271.4:c.3755-53_3755-46del	NP_000262.2:n.3755-53_3755-46del
XM_005258277.1:c.3805+1018_3805+1025del	XP_005258334.1:n.3805+1018_3805+1025del
XM_005258278.3:c.3806-53_3806-46del	XP_005258335.1:n.3806-53_3806-46del
XM_005258279.1:c.3754+1018_3754+1025del	XP_005258336.1:n.3754+1018_3754+1025del
XM_006722479.2:c.3805+1018_3805+1025del	XP_006722542.1:n.3805+1018_3805+1025del
XM_011526015.1:c.3340+1018_3340+1025del	XP_011524317.1:n.3340+1018_3340+1025del
XM_005258278.5:c.3806-53_3806-46del	XP_005258335.1:n.3806-53_3806-46del
XM_005258279.2:c.3754+1018_3754+1025del	XP_005258336.1:n.3754+1018_3754+1025del
XM_006722479.3:c.3805+1018_3805+1025del	XP_006722542.1:n.3805+1018_3805+1025del
XM_017025784.1:c.3805+1018_3805+1025del	XP_016881273.1:n.3805+1018_3805+1025del
XM_017025785.1:c.3805+1018_3805+1025del	XP_016881274.1:n.3805+1018_3805+1025del
XM_017025786.1:c.3754+1018_3754+1025del	XP_016881275.1:n.3754+1018_3754+1025del
XM_017025787.1:c.3754+1018_3754+1025del	XP_016881276.1:n.3754+1018_3754+1025del
NM_000271.5:c.3755-53_3755-46del MANE Select	NP_000262.2:n.3755-53_3755-46del