Canonical Allele Identifier: CA2695227423

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535599_23535600del , CM000680.2:g.23535599_23535600del	GRCh38
NC_000018.9:g.21115563_21115564del , CM000680.1:g.21115563_21115564del	GRCh37
NC_000018.8:g.19369561_19369562del	NCBI36
NG_012795.1:g.56019_56020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3347_3348del MANE Select	ENSP00000269228.4:p.Leu1116ProfsTer4
ENST00000269228.9:c.3347_3348del	ENSP00000269228.4:p.Leu1116ProfsTer4
ENST00000586150.5:c.102_103del
ENST00000588867.1:n.102_103del
ENST00000591051.1:c.2425_2426del
ENST00000591107.6:c.24_25del
NM_000271.4:c.3347_3348del	NP_000262.2:p.Leu1116ProfsTer4
XM_005258277.1:c.3398_3399del	XP_005258334.1:p.Leu1133ProfsTer4
XM_005258278.3:c.3398_3399del	XP_005258335.1:p.Leu1133ProfsTer4
XM_005258279.1:c.3347_3348del	XP_005258336.1:p.Leu1116ProfsTer4
XM_006722479.2:c.3398_3399del	XP_006722542.1:p.Leu1133ProfsTer4
XM_011526015.1:c.2933_2934del	XP_011524317.1:p.Leu978ProfsTer4
XM_005258278.5:c.3398_3399del	XP_005258335.1:p.Leu1133ProfsTer4
XM_005258279.2:c.3347_3348del	XP_005258336.1:p.Leu1116ProfsTer4
XM_006722479.3:c.3398_3399del	XP_006722542.1:p.Leu1133ProfsTer4
XM_017025784.1:c.3398_3399del	XP_016881273.1:p.Leu1133ProfsTer4
XM_017025785.1:c.3398_3399del	XP_016881274.1:p.Leu1133ProfsTer4
XM_017025786.1:c.3347_3348del	XP_016881275.1:p.Leu1116ProfsTer4
XM_017025787.1:c.3347_3348del	XP_016881276.1:p.Leu1116ProfsTer4
NM_000271.5:c.3347_3348del MANE Select	NP_000262.2:p.Leu1116ProfsTer4