Canonical Allele Identifier: CA777722810

Gene: NPC1

Linked Data

• dbSNP Id: rs1435330631
• gnomAD v3: 18-23561289-CTG-C
• gnomAD v4: 18-23561289-CTG-C
• MyVariant Identifiers: chr18:g.21141254_21141255del (hg19) ; chr18:g.23561290_23561291del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23561292_23561293del , CM000680.2:g.23561292_23561293del	GRCh38
NC_000018.9:g.21141256_21141257del , CM000680.1:g.21141256_21141257del	GRCh37
NC_000018.8:g.19395254_19395255del	NCBI36
NG_012795.1:g.30327_30328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.631+69_631+70del MANE Select	ENSP00000269228.4:n.631+69_631+70del
ENST00000269228.9:c.631+69_631+70del	ENSP00000269228.4:n.631+69_631+70del
ENST00000540608.5:n.545+69_545+70del
NM_000271.4:c.631+69_631+70del	NP_000262.2:n.631+69_631+70del
XM_005258277.1:c.631+69_631+70del	XP_005258334.1:n.631+69_631+70del
XM_005258278.3:c.631+69_631+70del	XP_005258335.1:n.631+69_631+70del
XM_005258279.1:c.631+69_631+70del	XP_005258336.1:n.631+69_631+70del
XM_006722479.2:c.631+69_631+70del	XP_006722542.1:n.631+69_631+70del
XM_011526015.1:c.166+69_166+70del	XP_011524317.1:n.166+69_166+70del
XM_005258278.5:c.631+69_631+70del	XP_005258335.1:n.631+69_631+70del
XM_005258279.2:c.631+69_631+70del	XP_005258336.1:n.631+69_631+70del
XM_006722479.3:c.631+69_631+70del	XP_006722542.1:n.631+69_631+70del
XM_017025784.1:c.631+69_631+70del	XP_016881273.1:n.631+69_631+70del
XM_017025785.1:c.631+69_631+70del	XP_016881274.1:n.631+69_631+70del
XM_017025786.1:c.631+69_631+70del	XP_016881275.1:n.631+69_631+70del
XM_017025787.1:c.631+69_631+70del	XP_016881276.1:n.631+69_631+70del
NM_000271.5:c.631+69_631+70del MANE Select	NP_000262.2:n.631+69_631+70del