Canonical Allele Identifier: CA274149

Gene: NPC1

Linked Data

• ClinVar Variation Id: 188932
• ClinVar RCV Id: RCV000169300 ; RCV000415902 ; RCV000781673 ; RCV003416051
• dbSNP Id: rs756815030
• ExAC: 18:21118573 CCT / C
• gnomAD v2: 18-21118573-CCT-C
• gnomAD v3: 18-23538609-CCT-C
• gnomAD v4: 18-23538609-CCT-C
• MyVariant Identifiers: chr18:g.21118574_21118575del (hg19) ; chr18:g.21118574_21118575delCT (hg19) ; chr18:g.23538610_23538611del (hg38)
• PubMed: PMID:10521290 ; PMID:12955717 ; PMID:19252935 ; PMID:23427322 ; PMID:24915861

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538610_23538611del , CM000680.2:g.23538610_23538611del	GRCh38
NC_000018.9:g.21118574_21118575del , CM000680.1:g.21118574_21118575del	GRCh37
NC_000018.8:g.19372572_19372573del	NCBI36
NG_012795.1:g.53007_53008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2972_2973del MANE Select	ENSP00000269228.4:p.Gln991ArgfsTer15
ENST00000269228.9:c.2972_2973del	ENSP00000269228.4:p.Gln991ArgfsTer15
ENST00000591051.1:c.2050_2051del
ENST00000591075.1:n.605_606del
ENST00000591955.1:n.315_316del
NM_000271.4:c.2972_2973del	NP_000262.2:p.Gln991ArgfsTer15
XM_005258277.1:c.3023_3024del	XP_005258334.1:p.Gln1008ArgfsTer15
XM_005258278.3:c.3023_3024del	XP_005258335.1:p.Gln1008ArgfsTer15
XM_005258279.1:c.2972_2973del	XP_005258336.1:p.Gln991ArgfsTer15
XM_006722479.2:c.3023_3024del	XP_006722542.1:p.Gln1008ArgfsTer15
XM_011526015.1:c.2558_2559del	XP_011524317.1:p.Gln853ArgfsTer15
XM_005258278.5:c.3023_3024del	XP_005258335.1:p.Gln1008ArgfsTer15
XM_005258279.2:c.2972_2973del	XP_005258336.1:p.Gln991ArgfsTer15
XM_006722479.3:c.3023_3024del	XP_006722542.1:p.Gln1008ArgfsTer15
XM_017025784.1:c.3023_3024del	XP_016881273.1:p.Gln1008ArgfsTer15
XM_017025785.1:c.3023_3024del	XP_016881274.1:p.Gln1008ArgfsTer15
XM_017025786.1:c.2972_2973del	XP_016881275.1:p.Gln991ArgfsTer15
XM_017025787.1:c.2972_2973del	XP_016881276.1:p.Gln991ArgfsTer15
NM_000271.5:c.2972_2973del MANE Select	NP_000262.2:p.Gln991ArgfsTer15