Canonical Allele Identifier: CA2580612675

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1923443
• ClinVar RCV Id: RCV002634584
• gnomAD v4: 18-23560264-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23560268_23560269del , CM000680.2:g.23560268_23560269del	GRCh38
NC_000018.9:g.21140232_21140233del , CM000680.1:g.21140232_21140233del	GRCh37
NC_000018.8:g.19394230_19394231del	NCBI36
NG_012795.1:g.31352_31353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.846_847del MANE Select	ENSP00000269228.4:p.Phe284TrpfsTer23
ENST00000269228.9:c.846_847del	ENSP00000269228.4:p.Phe284TrpfsTer23
ENST00000540608.5:n.760_761del
ENST00000591051.1:c.77_78del
NM_000271.4:c.846_847del	NP_000262.2:p.Phe284TrpfsTer23
XM_005258277.1:c.846_847del	XP_005258334.1:p.Phe284TrpfsTer23
XM_005258278.3:c.846_847del	XP_005258335.1:p.Phe284TrpfsTer23
XM_005258279.1:c.846_847del	XP_005258336.1:p.Phe284TrpfsTer23
XM_006722479.2:c.846_847del	XP_006722542.1:p.Phe284TrpfsTer23
XM_011526015.1:c.381_382del	XP_011524317.1:p.Phe129TrpfsTer23
XM_005258278.5:c.846_847del	XP_005258335.1:p.Phe284TrpfsTer23
XM_005258279.2:c.846_847del	XP_005258336.1:p.Phe284TrpfsTer23
XM_006722479.3:c.846_847del	XP_006722542.1:p.Phe284TrpfsTer23
XM_017025784.1:c.846_847del	XP_016881273.1:p.Phe284TrpfsTer23
XM_017025785.1:c.846_847del	XP_016881274.1:p.Phe284TrpfsTer23
XM_017025786.1:c.846_847del	XP_016881275.1:p.Phe284TrpfsTer23
XM_017025787.1:c.846_847del	XP_016881276.1:p.Phe284TrpfsTer23
NM_000271.5:c.846_847del MANE Select	NP_000262.2:p.Phe284TrpfsTer23