Canonical Allele Identifier: CA2290175678

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23560272_23560273delinsCA , CM000680.2:g.23560272_23560273delinsCA	GRCh38
NC_000018.9:g.21140236_21140237delinsCA , CM000680.1:g.21140236_21140237delinsCA	GRCh37
NC_000018.8:g.19394234_19394235delinsCA	NCBI36
NG_012795.1:g.31345_31346delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.839_840delinsTG MANE Select	ENSP00000269228.4:p.Leu280=
ENST00000269228.9:c.839_840delinsTG	ENSP00000269228.4:p.Leu280=
ENST00000540608.5:n.753_754delinsTG
ENST00000591051.1:c.70_71delinsTG
NM_000271.4:c.839_840delinsTG	NP_000262.2:p.Leu280=
XM_005258277.1:c.839_840delinsTG	XP_005258334.1:p.Leu280=
XM_005258278.3:c.839_840delinsTG	XP_005258335.1:p.Leu280=
XM_005258279.1:c.839_840delinsTG	XP_005258336.1:p.Leu280=
XM_006722479.2:c.839_840delinsTG	XP_006722542.1:p.Leu280=
XM_011526015.1:c.374_375delinsTG	XP_011524317.1:p.Leu125=
XM_005258278.5:c.839_840delinsTG	XP_005258335.1:p.Leu280=
XM_005258279.2:c.839_840delinsTG	XP_005258336.1:p.Leu280=
XM_006722479.3:c.839_840delinsTG	XP_006722542.1:p.Leu280=
XM_017025784.1:c.839_840delinsTG	XP_016881273.1:p.Leu280=
XM_017025785.1:c.839_840delinsTG	XP_016881274.1:p.Leu280=
XM_017025786.1:c.839_840delinsTG	XP_016881275.1:p.Leu280=
XM_017025787.1:c.839_840delinsTG	XP_016881276.1:p.Leu280=
NM_000271.5:c.839_840delinsTG MANE Select	NP_000262.2:p.Leu280=