Canonical Allele Identifier: CA658824816

Gene: NPC1

Linked Data

• ClinVar Variation Id: 557930
• ClinVar RCV Id: RCV000674132 ; RCV003320722
• dbSNP Id: rs1555633309
• MyVariant Identifiers: chr18:g.23539894del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539897del , CM000680.2:g.23539897del	GRCh38
NC_000018.9:g.21119861del , CM000680.1:g.21119861del	GRCh37
NC_000018.8:g.19373859del	NCBI36
NG_012795.1:g.51724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2712del MANE Select	ENSP00000269228.4:p.Gln905ArgfsTer?
ENST00000269228.9:c.2712del	ENSP00000269228.4:p.Gln905ArgfsTer?
ENST00000540608.5:n.2626del
ENST00000586718.1:n.503del
ENST00000591051.1:c.1790del
ENST00000591075.1:n.5del
NM_000271.4:c.2712del	NP_000262.2:p.Gln905ArgfsTer?
XM_005258277.1:c.2763del	XP_005258334.1:p.Gln922ArgfsTer?
XM_005258278.3:c.2763del	XP_005258335.1:p.Gln922ArgfsTer?
XM_005258279.1:c.2712del	XP_005258336.1:p.Gln905ArgfsTer?
XM_006722479.2:c.2763del	XP_006722542.1:p.Gln922ArgfsTer?
XM_011526015.1:c.2298del	XP_011524317.1:p.Gln767ArgfsTer?
XM_005258278.5:c.2763del	XP_005258335.1:p.Gln922ArgfsTer?
XM_005258279.2:c.2712del	XP_005258336.1:p.Gln905ArgfsTer?
XM_006722479.3:c.2763del	XP_006722542.1:p.Gln922ArgfsTer?
XM_017025784.1:c.2763del	XP_016881273.1:p.Gln922ArgfsTer?
XM_017025785.1:c.2763del	XP_016881274.1:p.Gln922ArgfsTer?
XM_017025786.1:c.2712del	XP_016881275.1:p.Gln905ArgfsTer?
XM_017025787.1:c.2712del	XP_016881276.1:p.Gln905ArgfsTer?
NM_000271.5:c.2712del MANE Select	NP_000262.2:p.Gln905ArgfsTer?