Canonical Allele Identifier: CA2641274171

Gene: NPC1

Linked Data

• gnomAD v4: 18-23568948-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568949_23568950del , CM000680.2:g.23568949_23568950del	GRCh38
NC_000018.9:g.21148913_21148914del , CM000680.1:g.21148913_21148914del	GRCh37
NC_000018.8:g.19402911_19402912del	NCBI36
NG_012795.1:g.22668_22669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.336_337del MANE Select	ENSP00000269228.4:p.Cys113Ter
ENST00000269228.9:c.336_337del	ENSP00000269228.4:p.Cys113Ter
ENST00000540608.5:n.250_251del
NM_000271.4:c.336_337del	NP_000262.2:p.Cys113Ter
XM_005258277.1:c.336_337del	XP_005258334.1:p.Cys113Ter
XM_005258278.3:c.336_337del	XP_005258335.1:p.Cys113Ter
XM_005258279.1:c.336_337del	XP_005258336.1:p.Cys113Ter
XM_006722479.2:c.336_337del	XP_006722542.1:p.Cys113Ter
XM_011526015.1:c.-130_-129del	XP_011524317.1:n.-130_-129del
XM_005258278.5:c.336_337del	XP_005258335.1:p.Cys113Ter
XM_005258279.2:c.336_337del	XP_005258336.1:p.Cys113Ter
XM_006722479.3:c.336_337del	XP_006722542.1:p.Cys113Ter
XM_017025784.1:c.336_337del	XP_016881273.1:p.Cys113Ter
XM_017025785.1:c.336_337del	XP_016881274.1:p.Cys113Ter
XM_017025786.1:c.336_337del	XP_016881275.1:p.Cys113Ter
XM_017025787.1:c.336_337del	XP_016881276.1:p.Cys113Ter
NM_000271.5:c.336_337del MANE Select	NP_000262.2:p.Cys113Ter