Canonical Allele Identifier: CA2580095504

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2135408
• ClinVar RCV Id: RCV003066280

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23551664_23551665insACGT , CM000680.2:g.23551664_23551665insACGT	GRCh38
NC_000018.9:g.21131628_21131629insACGT , CM000680.1:g.21131628_21131629insACGT	GRCh37
NC_000018.8:g.19385626_19385627insACGT	NCBI36
NG_012795.1:g.39955_39956insGTAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1618_1619insGTAC MANE Select	ENSP00000269228.4:p.Pro540ArgfsTer13
ENST00000269228.9:c.1618_1619insGTAC	ENSP00000269228.4:p.Pro540ArgfsTer13
ENST00000540608.5:n.1532_1533insGTAC
ENST00000590301.1:n.293_294insGTAC
ENST00000591051.1:c.835+3095_835+3096insGTAC
NM_000271.4:c.1618_1619insGTAC	NP_000262.2:p.Pro540ArgfsTer13
XM_005258277.1:c.1669_1670insGTAC	XP_005258334.1:p.Pro557ArgfsTer13
XM_005258278.3:c.1669_1670insGTAC	XP_005258335.1:p.Pro557ArgfsTer13
XM_005258279.1:c.1618_1619insGTAC	XP_005258336.1:p.Pro540ArgfsTer13
XM_006722479.2:c.1669_1670insGTAC	XP_006722542.1:p.Pro557ArgfsTer13
XM_011526015.1:c.1204_1205insGTAC	XP_011524317.1:p.Pro402ArgfsTer13
XM_005258278.5:c.1669_1670insGTAC	XP_005258335.1:p.Pro557ArgfsTer13
XM_005258279.2:c.1618_1619insGTAC	XP_005258336.1:p.Pro540ArgfsTer13
XM_006722479.3:c.1669_1670insGTAC	XP_006722542.1:p.Pro557ArgfsTer13
XM_017025784.1:c.1669_1670insGTAC	XP_016881273.1:p.Pro557ArgfsTer13
XM_017025785.1:c.1669_1670insGTAC	XP_016881274.1:p.Pro557ArgfsTer13
XM_017025786.1:c.1618_1619insGTAC	XP_016881275.1:p.Pro540ArgfsTer13
XM_017025787.1:c.1618_1619insGTAC	XP_016881276.1:p.Pro540ArgfsTer13
NM_000271.5:c.1618_1619insGTAC MANE Select	NP_000262.2:p.Pro540ArgfsTer13