Canonical Allele Identifier: CA8913746

Gene: NPC1

Linked Data

• ClinVar Variation Id: 554442
• ClinVar RCV Id: RCV000670077
• dbSNP Id: rs770580241
• ExAC: 18:21148821 CTCTT / C
• gnomAD v2: 18-21148821-CTCTT-C
• MyVariant Identifiers: chr18:g.21148822_21148825del (hg19) ; chr18:g.23568858_23568861del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568860_23568863del , CM000680.2:g.23568860_23568863del	GRCh38
NC_000018.9:g.21148824_21148827del , CM000680.1:g.21148824_21148827del	GRCh37
NC_000018.8:g.19402822_19402825del	NCBI36
NG_012795.1:g.22757_22760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.425_428del MANE Select	ENSP00000269228.4:p.Lys142SerfsTer?
ENST00000269228.9:c.425_428del	ENSP00000269228.4:p.Lys142SerfsTer?
ENST00000540608.5:n.339_342del
NM_000271.4:c.425_428del	NP_000262.2:p.Lys142SerfsTer?
XM_005258277.1:c.425_428del	XP_005258334.1:p.Lys142SerfsTer?
XM_005258278.3:c.425_428del	XP_005258335.1:p.Lys142SerfsTer?
XM_005258279.1:c.425_428del	XP_005258336.1:p.Lys142SerfsTer?
XM_006722479.2:c.425_428del	XP_006722542.1:p.Lys142SerfsTer?
XM_011526015.1:c.-41_-38del	XP_011524317.1:n.-41_-38del
XM_005258278.5:c.425_428del	XP_005258335.1:p.Lys142SerfsTer?
XM_005258279.2:c.425_428del	XP_005258336.1:p.Lys142SerfsTer?
XM_006722479.3:c.425_428del	XP_006722542.1:p.Lys142SerfsTer?
XM_017025784.1:c.425_428del	XP_016881273.1:p.Lys142SerfsTer?
XM_017025785.1:c.425_428del	XP_016881274.1:p.Lys142SerfsTer?
XM_017025786.1:c.425_428del	XP_016881275.1:p.Lys142SerfsTer?
XM_017025787.1:c.425_428del	XP_016881276.1:p.Lys142SerfsTer?
NM_000271.5:c.425_428del MANE Select	NP_000262.2:p.Lys142SerfsTer?