Canonical Allele Identifier: CA628978863

Gene: NPC1

Linked Data

• dbSNP Id: rs1394467629
• gnomAD v2: 18-21124428-GC-G
• gnomAD v3: 18-23544464-GC-G
• gnomAD v4: 18-23544464-GC-G
• MyVariant Identifiers: chr18:g.21124429del (hg19) ; chr18:g.23544465del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544465del , CM000680.2:g.23544465del	GRCh38
NC_000018.9:g.21124429del , CM000680.1:g.21124429del	GRCh37
NC_000018.8:g.19378427del	NCBI36
NG_012795.1:g.47153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2009del MANE Select	ENSP00000269228.4:p.Cys670SerfsTer13
ENST00000269228.9:c.2009del	ENSP00000269228.4:p.Cys670SerfsTer13
ENST00000540608.5:n.1923del
ENST00000591051.1:c.1087del
NM_000271.4:c.2009del	NP_000262.2:p.Cys670SerfsTer13
XM_005258277.1:c.2060del	XP_005258334.1:p.Cys687SerfsTer13
XM_005258278.3:c.2060del	XP_005258335.1:p.Cys687SerfsTer13
XM_005258279.1:c.2009del	XP_005258336.1:p.Cys670SerfsTer13
XM_006722479.2:c.2060del	XP_006722542.1:p.Cys687SerfsTer13
XM_011526015.1:c.1595del	XP_011524317.1:p.Cys532SerfsTer13
XM_005258278.5:c.2060del	XP_005258335.1:p.Cys687SerfsTer13
XM_005258279.2:c.2009del	XP_005258336.1:p.Cys670SerfsTer13
XM_006722479.3:c.2060del	XP_006722542.1:p.Cys687SerfsTer13
XM_017025784.1:c.2060del	XP_016881273.1:p.Cys687SerfsTer13
XM_017025785.1:c.2060del	XP_016881274.1:p.Cys687SerfsTer13
XM_017025786.1:c.2009del	XP_016881275.1:p.Cys670SerfsTer13
XM_017025787.1:c.2009del	XP_016881276.1:p.Cys670SerfsTer13
NM_000271.5:c.2009del MANE Select	NP_000262.2:p.Cys670SerfsTer13