Canonical Allele Identifier: CA2580095523

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1705773
• ClinVar RCV Id: RCV002284083

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539857_23539872del , CM000680.2:g.23539857_23539872del	GRCh38
NC_000018.9:g.21119821_21119836del , CM000680.1:g.21119821_21119836del	GRCh37
NC_000018.8:g.19373819_19373834del	NCBI36
NG_012795.1:g.51748_51763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2736_2751del MANE Select	ENSP00000269228.4:p.Met912IlefsTer19
ENST00000269228.9:c.2736_2751del	ENSP00000269228.4:p.Met912IlefsTer19
ENST00000540608.5:n.2650_2665del
ENST00000586718.1:n.527_542del
ENST00000591051.1:c.1814_1829del
ENST00000591075.1:n.29_44del
NM_000271.4:c.2736_2751del	NP_000262.2:p.Met912IlefsTer19
XM_005258277.1:c.2787_2802del	XP_005258334.1:p.Met929IlefsTer19
XM_005258278.3:c.2787_2802del	XP_005258335.1:p.Met929IlefsTer19
XM_005258279.1:c.2736_2751del	XP_005258336.1:p.Met912IlefsTer19
XM_006722479.2:c.2787_2802del	XP_006722542.1:p.Met929IlefsTer19
XM_011526015.1:c.2322_2337del	XP_011524317.1:p.Met774IlefsTer19
XM_005258278.5:c.2787_2802del	XP_005258335.1:p.Met929IlefsTer19
XM_005258279.2:c.2736_2751del	XP_005258336.1:p.Met912IlefsTer19
XM_006722479.3:c.2787_2802del	XP_006722542.1:p.Met929IlefsTer19
XM_017025784.1:c.2787_2802del	XP_016881273.1:p.Met929IlefsTer19
XM_017025785.1:c.2787_2802del	XP_016881274.1:p.Met929IlefsTer19
XM_017025786.1:c.2736_2751del	XP_016881275.1:p.Met912IlefsTer19
XM_017025787.1:c.2736_2751del	XP_016881276.1:p.Met912IlefsTer19
NM_000271.5:c.2736_2751del MANE Select	NP_000262.2:p.Met912IlefsTer19