Canonical Allele Identifier: CA628677789

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1341592
• ClinVar RCV Id: RCV001837088 ; RCV002246541
• dbSNP Id: rs1567948623
• gnomAD v2: 18-21118574-CT-C
• gnomAD v4: 18-23538610-CT-C
• MyVariant Identifiers: chr18:g.21118575del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538611del , CM000680.2:g.23538611del	GRCh38
NC_000018.9:g.21118575del , CM000680.1:g.21118575del	GRCh37
NC_000018.8:g.19372573del	NCBI36
NG_012795.1:g.53007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2972del MANE Select	ENSP00000269228.4:p.Gln991ArgfsTer6
ENST00000269228.9:c.2972del	ENSP00000269228.4:p.Gln991ArgfsTer6
ENST00000591051.1:c.2050del
ENST00000591075.1:n.605del
ENST00000591955.1:n.315del
NM_000271.4:c.2972del	NP_000262.2:p.Gln991ArgfsTer6
XM_005258277.1:c.3023del	XP_005258334.1:p.Gln1008ArgfsTer6
XM_005258278.3:c.3023del	XP_005258335.1:p.Gln1008ArgfsTer6
XM_005258279.1:c.2972del	XP_005258336.1:p.Gln991ArgfsTer6
XM_006722479.2:c.3023del	XP_006722542.1:p.Gln1008ArgfsTer6
XM_011526015.1:c.2558del	XP_011524317.1:p.Gln853ArgfsTer6
XM_005258278.5:c.3023del	XP_005258335.1:p.Gln1008ArgfsTer6
XM_005258279.2:c.2972del	XP_005258336.1:p.Gln991ArgfsTer6
XM_006722479.3:c.3023del	XP_006722542.1:p.Gln1008ArgfsTer6
XM_017025784.1:c.3023del	XP_016881273.1:p.Gln1008ArgfsTer6
XM_017025785.1:c.3023del	XP_016881274.1:p.Gln1008ArgfsTer6
XM_017025786.1:c.2972del	XP_016881275.1:p.Gln991ArgfsTer6
XM_017025787.1:c.2972del	XP_016881276.1:p.Gln991ArgfsTer6
NM_000271.5:c.2972del MANE Select	NP_000262.2:p.Gln991ArgfsTer6