Canonical Allele Identifier: CA297074582

Gene: NPC1

Linked Data

• MyVariant Identifiers: chr18:g.21140222_21140223insA (hg19) ; chr18:g.23560258_23560259insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23560258_23560259insA , CM000680.2:g.23560258_23560259insA	GRCh38
NC_000018.9:g.21140222_21140223insA , CM000680.1:g.21140222_21140223insA	GRCh37
NC_000018.8:g.19394220_19394221insA	NCBI36
NG_012795.1:g.31359_31360insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.853_854insT MANE Select	ENSP00000269228.4:p.Gly285ValfsTer23
ENST00000269228.9:c.853_854insT	ENSP00000269228.4:p.Gly285ValfsTer23
ENST00000540608.5:n.767_768insT
ENST00000591051.1:c.84_85insT
NM_000271.4:c.853_854insT	NP_000262.2:p.Gly285ValfsTer23
XM_005258277.1:c.853_854insT	XP_005258334.1:p.Gly285ValfsTer23
XM_005258278.3:c.853_854insT	XP_005258335.1:p.Gly285ValfsTer23
XM_005258279.1:c.853_854insT	XP_005258336.1:p.Gly285ValfsTer23
XM_006722479.2:c.853_854insT	XP_006722542.1:p.Gly285ValfsTer23
XM_011526015.1:c.388_389insT	XP_011524317.1:p.Gly130ValfsTer23
XM_005258278.5:c.853_854insT	XP_005258335.1:p.Gly285ValfsTer23
XM_005258279.2:c.853_854insT	XP_005258336.1:p.Gly285ValfsTer23
XM_006722479.3:c.853_854insT	XP_006722542.1:p.Gly285ValfsTer23
XM_017025784.1:c.853_854insT	XP_016881273.1:p.Gly285ValfsTer23
XM_017025785.1:c.853_854insT	XP_016881274.1:p.Gly285ValfsTer23
XM_017025786.1:c.853_854insT	XP_016881275.1:p.Gly285ValfsTer23
XM_017025787.1:c.853_854insT	XP_016881276.1:p.Gly285ValfsTer23
NM_000271.5:c.853_854insT MANE Select	NP_000262.2:p.Gly285ValfsTer23