Canonical Allele Identifier: CA2580095495

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1725209
• ClinVar RCV Id: RCV002308268

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538558_23538559del , CM000680.2:g.23538558_23538559del	GRCh38
NC_000018.9:g.21118522_21118523del , CM000680.1:g.21118522_21118523del	GRCh37
NC_000018.8:g.19372520_19372521del	NCBI36
NG_012795.1:g.53061_53062del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3026_3027del MANE Select	ENSP00000269228.4:p.Pro1009GlnfsTer11
ENST00000269228.9:c.3026_3027del	ENSP00000269228.4:p.Pro1009GlnfsTer11
ENST00000591051.1:c.2104_2105del
ENST00000591075.1:n.659_660del
ENST00000591955.1:n.369_370del
NM_000271.4:c.3026_3027del	NP_000262.2:p.Pro1009GlnfsTer11
XM_005258277.1:c.3077_3078del	XP_005258334.1:p.Pro1026GlnfsTer11
XM_005258278.3:c.3077_3078del	XP_005258335.1:p.Pro1026GlnfsTer11
XM_005258279.1:c.3026_3027del	XP_005258336.1:p.Pro1009GlnfsTer11
XM_006722479.2:c.3077_3078del	XP_006722542.1:p.Pro1026GlnfsTer11
XM_011526015.1:c.2612_2613del	XP_011524317.1:p.Pro871GlnfsTer11
XM_005258278.5:c.3077_3078del	XP_005258335.1:p.Pro1026GlnfsTer11
XM_005258279.2:c.3026_3027del	XP_005258336.1:p.Pro1009GlnfsTer11
XM_006722479.3:c.3077_3078del	XP_006722542.1:p.Pro1026GlnfsTer11
XM_017025784.1:c.3077_3078del	XP_016881273.1:p.Pro1026GlnfsTer11
XM_017025785.1:c.3077_3078del	XP_016881274.1:p.Pro1026GlnfsTer11
XM_017025786.1:c.3026_3027del	XP_016881275.1:p.Pro1009GlnfsTer11
XM_017025787.1:c.3026_3027del	XP_016881276.1:p.Pro1009GlnfsTer11
NM_000271.5:c.3026_3027del MANE Select	NP_000262.2:p.Pro1009GlnfsTer11