Canonical Allele Identifier: CA2580095524

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1705816
• ClinVar RCV Id: RCV002284126

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23554799_23554801del , CM000680.2:g.23554799_23554801del	GRCh38
NC_000018.9:g.21134763_21134765del , CM000680.1:g.21134763_21134765del	GRCh37
NC_000018.8:g.19388761_19388763del	NCBI36
NG_012795.1:g.36817_36819del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1510_1512del MANE Select	ENSP00000269228.4:p.Phe504del
ENST00000269228.9:c.1510_1512del	ENSP00000269228.4:p.Phe504del
ENST00000540608.5:n.1424_1426del
ENST00000590301.1:n.185_187del
ENST00000591051.1:c.792_794del
NM_000271.4:c.1510_1512del	NP_000262.2:p.Phe504del
XM_005258277.1:c.1561_1563del	XP_005258334.1:p.Phe521del
XM_005258278.3:c.1561_1563del	XP_005258335.1:p.Phe521del
XM_005258279.1:c.1510_1512del	XP_005258336.1:p.Phe504del
XM_006722479.2:c.1561_1563del	XP_006722542.1:p.Phe521del
XM_011526015.1:c.1096_1098del	XP_011524317.1:p.Phe366del
XM_005258278.5:c.1561_1563del	XP_005258335.1:p.Phe521del
XM_005258279.2:c.1510_1512del	XP_005258336.1:p.Phe504del
XM_006722479.3:c.1561_1563del	XP_006722542.1:p.Phe521del
XM_017025784.1:c.1561_1563del	XP_016881273.1:p.Phe521del
XM_017025785.1:c.1561_1563del	XP_016881274.1:p.Phe521del
XM_017025786.1:c.1510_1512del	XP_016881275.1:p.Phe504del
XM_017025787.1:c.1510_1512del	XP_016881276.1:p.Phe504del
NM_000271.5:c.1510_1512del MANE Select	NP_000262.2:p.Phe504del