Canonical Allele Identifier: CA16041912

Gene: NPC1

Linked Data

• ClinVar Variation Id: 370581
• ClinVar RCV Id: RCV000411615
• dbSNP Id: rs1057516603
• gnomAD v2: 18-21119794-CG-C
• gnomAD v4: 18-23539830-CG-C
• MyVariant Identifiers: chr18:g.21119795del (hg19) ; chr18:g.23539831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539831del , CM000680.2:g.23539831del	GRCh38
NC_000018.9:g.21119795del , CM000680.1:g.21119795del	GRCh37
NC_000018.8:g.19373793del	NCBI36
NG_012795.1:g.51787del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.2775del MANE Select	ENSP00000269228.4:p.Asn925LysfsTer11
ENST00000269228.9:c.2775del	ENSP00000269228.4:p.Asn925LysfsTer11
ENST00000540608.5:n.2689del
ENST00000586718.1:n.566del
ENST00000591051.1:c.1853del
ENST00000591075.1:n.68del
NM_000271.4:c.2775del	NP_000262.2:p.Asn925LysfsTer11
XM_005258277.1:c.2826del	XP_005258334.1:p.Asn942LysfsTer11
XM_005258278.3:c.2826del	XP_005258335.1:p.Asn942LysfsTer11
XM_005258279.1:c.2775del	XP_005258336.1:p.Asn925LysfsTer11
XM_006722479.2:c.2826del	XP_006722542.1:p.Asn942LysfsTer11
XM_011526015.1:c.2361del	XP_011524317.1:p.Asn787LysfsTer11
XM_005258278.5:c.2826del	XP_005258335.1:p.Asn942LysfsTer11
XM_005258279.2:c.2775del	XP_005258336.1:p.Asn925LysfsTer11
XM_006722479.3:c.2826del	XP_006722542.1:p.Asn942LysfsTer11
XM_017025784.1:c.2826del	XP_016881273.1:p.Asn942LysfsTer11
XM_017025785.1:c.2826del	XP_016881274.1:p.Asn942LysfsTer11
XM_017025786.1:c.2775del	XP_016881275.1:p.Asn925LysfsTer11
XM_017025787.1:c.2775del	XP_016881276.1:p.Asn925LysfsTer11
NM_000271.5:c.2775del MANE Select	NP_000262.2:p.Asn925LysfsTer11