Canonical Allele Identifier: CA645600303

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2713959
• ClinVar RCV Id: RCV003501361
• COSMIC: COSM2807356

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556544del , CM000680.2:g.23556544del	GRCh38
NC_000018.9:g.21136508del , CM000680.1:g.21136508del	GRCh37
NC_000018.8:g.19390506del	NCBI36
NG_012795.1:g.35078del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1029del MANE Select	ENSP00000269228.4:p.Ser344LeufsTer?
ENST00000269228.9:c.1029del	ENSP00000269228.4:p.Ser344LeufsTer?
ENST00000540608.5:n.943del
ENST00000591051.1:c.311del
NM_000271.4:c.1029del	NP_000262.2:p.Ser344LeufsTer?
XM_005258277.1:c.1080del	XP_005258334.1:p.Ser361LeufsTer?
XM_005258278.3:c.1080del	XP_005258335.1:p.Ser361LeufsTer?
XM_005258279.1:c.1029del	XP_005258336.1:p.Ser344LeufsTer?
XM_006722479.2:c.1080del	XP_006722542.1:p.Ser361LeufsTer?
XM_011526015.1:c.615del	XP_011524317.1:p.Ser206LeufsTer?
XM_005258278.5:c.1080del	XP_005258335.1:p.Ser361LeufsTer?
XM_005258279.2:c.1029del	XP_005258336.1:p.Ser344LeufsTer?
XM_006722479.3:c.1080del	XP_006722542.1:p.Ser361LeufsTer?
XM_017025784.1:c.1080del	XP_016881273.1:p.Ser361LeufsTer?
XM_017025785.1:c.1080del	XP_016881274.1:p.Ser361LeufsTer?
XM_017025786.1:c.1029del	XP_016881275.1:p.Ser344LeufsTer?
XM_017025787.1:c.1029del	XP_016881276.1:p.Ser344LeufsTer?
NM_000271.5:c.1029del MANE Select	NP_000262.2:p.Ser344LeufsTer?