Canonical Allele Identifier: CA2580095488

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1705782
• ClinVar RCV Id: RCV002284092

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23536802_23536822delinsCGACCTG , CM000680.2:g.23536802_23536822delinsCGACCTG	GRCh38
NC_000018.9:g.21116766_21116786delinsCGACCTG , CM000680.1:g.21116766_21116786delinsCGACCTG	GRCh37
NC_000018.8:g.19370764_19370784delinsCGACCTG	NCBI36
NG_012795.1:g.54796_54816delinsCAGGTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3096_3116delinsCAGGTCG MANE Select	ENSP00000269228.4:p.Arg1032SerfsTer14
ENST00000269228.9:c.3096_3116delinsCAGGTCG	ENSP00000269228.4:p.Arg1032SerfsTer14
ENST00000591051.1:c.2174_2194delinsCAGGTCG
ENST00000591075.1:n.729_749delinsCAGGTCG
ENST00000591955.1:n.439_459delinsCAGGTCG
NM_000271.4:c.3096_3116delinsCAGGTCG	NP_000262.2:p.Arg1032SerfsTer14
XM_005258277.1:c.3147_3167delinsCAGGTCG	XP_005258334.1:p.Arg1049SerfsTer14
XM_005258278.3:c.3147_3167delinsCAGGTCG	XP_005258335.1:p.Arg1049SerfsTer14
XM_005258279.1:c.3096_3116delinsCAGGTCG	XP_005258336.1:p.Arg1032SerfsTer14
XM_006722479.2:c.3147_3167delinsCAGGTCG	XP_006722542.1:p.Arg1049SerfsTer14
XM_011526015.1:c.2682_2702delinsCAGGTCG	XP_011524317.1:p.Arg894SerfsTer14
XM_005258278.5:c.3147_3167delinsCAGGTCG	XP_005258335.1:p.Arg1049SerfsTer14
XM_005258279.2:c.3096_3116delinsCAGGTCG	XP_005258336.1:p.Arg1032SerfsTer14
XM_006722479.3:c.3147_3167delinsCAGGTCG	XP_006722542.1:p.Arg1049SerfsTer14
XM_017025784.1:c.3147_3167delinsCAGGTCG	XP_016881273.1:p.Arg1049SerfsTer14
XM_017025785.1:c.3147_3167delinsCAGGTCG	XP_016881274.1:p.Arg1049SerfsTer14
XM_017025786.1:c.3096_3116delinsCAGGTCG	XP_016881275.1:p.Arg1032SerfsTer14
XM_017025787.1:c.3096_3116delinsCAGGTCG	XP_016881276.1:p.Arg1032SerfsTer14
NM_000271.5:c.3096_3116delinsCAGGTCG MANE Select	NP_000262.2:p.Arg1032SerfsTer14