Canonical Allele Identifier: CA658799012

Gene: NPC1

Linked Data

• ClinVar Variation Id: 499393
• ClinVar RCV Id: RCV000591133
• dbSNP Id: rs1555641037
• MyVariant Identifiers: chr18:g.21148826_21148827insTC (hg19) ; chr18:g.23568862_23568863insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568862_23568863insTC , CM000680.2:g.23568862_23568863insTC	GRCh38
NC_000018.9:g.21148826_21148827insTC , CM000680.1:g.21148826_21148827insTC	GRCh37
NC_000018.8:g.19402824_19402825insTC	NCBI36
NG_012795.1:g.22755_22756insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.423_424insGA MANE Select	ENSP00000269228.4:p.Lys142GlufsTer?
ENST00000269228.9:c.423_424insGA	ENSP00000269228.4:p.Lys142GlufsTer?
ENST00000540608.5:n.337_338insGA
NM_000271.4:c.423_424insGA	NP_000262.2:p.Lys142GlufsTer?
XM_005258277.1:c.423_424insGA	XP_005258334.1:p.Lys142GlufsTer?
XM_005258278.3:c.423_424insGA	XP_005258335.1:p.Lys142GlufsTer?
XM_005258279.1:c.423_424insGA	XP_005258336.1:p.Lys142GlufsTer?
XM_006722479.2:c.423_424insGA	XP_006722542.1:p.Lys142GlufsTer?
XM_011526015.1:c.-43_-42insGA	XP_011524317.1:n.-43_-42insGA
XM_005258278.5:c.423_424insGA	XP_005258335.1:p.Lys142GlufsTer?
XM_005258279.2:c.423_424insGA	XP_005258336.1:p.Lys142GlufsTer?
XM_006722479.3:c.423_424insGA	XP_006722542.1:p.Lys142GlufsTer?
XM_017025784.1:c.423_424insGA	XP_016881273.1:p.Lys142GlufsTer?
XM_017025785.1:c.423_424insGA	XP_016881274.1:p.Lys142GlufsTer?
XM_017025786.1:c.423_424insGA	XP_016881275.1:p.Lys142GlufsTer?
XM_017025787.1:c.423_424insGA	XP_016881276.1:p.Lys142GlufsTer?
NM_000271.5:c.423_424insGA MANE Select	NP_000262.2:p.Lys142GlufsTer?