Canonical Allele Identifier: CA2580095611

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1724710
• ClinVar RCV Id: RCV002309978

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544438_23544439delinsA , CM000680.2:g.23544438_23544439delinsA	GRCh38
NC_000018.9:g.21124402_21124403delinsA , CM000680.1:g.21124402_21124403delinsA	GRCh37
NC_000018.8:g.19378400_19378401delinsA	NCBI36
NG_012795.1:g.47179_47180delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2035_2036delinsT MANE Select	ENSP00000269228.4:p.Gly679CysfsTer4
ENST00000269228.9:c.2035_2036delinsT	ENSP00000269228.4:p.Gly679CysfsTer4
ENST00000540608.5:n.1949_1950delinsT
ENST00000591051.1:c.1113_1114delinsT
NM_000271.4:c.2035_2036delinsT	NP_000262.2:p.Gly679CysfsTer4
XM_005258277.1:c.2086_2087delinsT	XP_005258334.1:p.Gly696CysfsTer4
XM_005258278.3:c.2086_2087delinsT	XP_005258335.1:p.Gly696CysfsTer4
XM_005258279.1:c.2035_2036delinsT	XP_005258336.1:p.Gly679CysfsTer4
XM_006722479.2:c.2086_2087delinsT	XP_006722542.1:p.Gly696CysfsTer4
XM_011526015.1:c.1621_1622delinsT	XP_011524317.1:p.Gly541CysfsTer4
XM_005258278.5:c.2086_2087delinsT	XP_005258335.1:p.Gly696CysfsTer4
XM_005258279.2:c.2035_2036delinsT	XP_005258336.1:p.Gly679CysfsTer4
XM_006722479.3:c.2086_2087delinsT	XP_006722542.1:p.Gly696CysfsTer4
XM_017025784.1:c.2086_2087delinsT	XP_016881273.1:p.Gly696CysfsTer4
XM_017025785.1:c.2086_2087delinsT	XP_016881274.1:p.Gly696CysfsTer4
XM_017025786.1:c.2035_2036delinsT	XP_016881275.1:p.Gly679CysfsTer4
XM_017025787.1:c.2035_2036delinsT	XP_016881276.1:p.Gly679CysfsTer4
NM_000271.5:c.2035_2036delinsT MANE Select	NP_000262.2:p.Gly679CysfsTer4