Canonical Allele Identifier: CA2580095610

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1726176
• ClinVar RCV Id: RCV002307147

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544429_23544430insCAGATGTGTATGAC , CM000680.2:g.23544429_23544430insCAGATGTGTATGAC	GRCh38
NC_000018.9:g.21124393_21124394insCAGATGTGTATGAC , CM000680.1:g.21124393_21124394insCAGATGTGTATGAC	GRCh37
NC_000018.8:g.19378391_19378392insCAGATGTGTATGAC	NCBI36
NG_012795.1:g.47188_47189insGTCATACACATCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.2044_2045insGTCATACACATCTG MANE Select	ENSP00000269228.4:p.Leu682CysfsTer6
ENST00000269228.9:c.2044_2045insGTCATACACATCTG	ENSP00000269228.4:p.Leu682CysfsTer6
ENST00000540608.5:n.1958_1959insGTCATACACATCTG
ENST00000591051.1:c.1122_1123insGTCATACACATCTG
NM_000271.4:c.2044_2045insGTCATACACATCTG	NP_000262.2:p.Leu682CysfsTer6
XM_005258277.1:c.2095_2096insGTCATACACATCTG	XP_005258334.1:p.Leu699CysfsTer6
XM_005258278.3:c.2095_2096insGTCATACACATCTG	XP_005258335.1:p.Leu699CysfsTer6
XM_005258279.1:c.2044_2045insGTCATACACATCTG	XP_005258336.1:p.Leu682CysfsTer6
XM_006722479.2:c.2095_2096insGTCATACACATCTG	XP_006722542.1:p.Leu699CysfsTer6
XM_011526015.1:c.1630_1631insGTCATACACATCTG	XP_011524317.1:p.Leu544CysfsTer6
XM_005258278.5:c.2095_2096insGTCATACACATCTG	XP_005258335.1:p.Leu699CysfsTer6
XM_005258279.2:c.2044_2045insGTCATACACATCTG	XP_005258336.1:p.Leu682CysfsTer6
XM_006722479.3:c.2095_2096insGTCATACACATCTG	XP_006722542.1:p.Leu699CysfsTer6
XM_017025784.1:c.2095_2096insGTCATACACATCTG	XP_016881273.1:p.Leu699CysfsTer6
XM_017025785.1:c.2095_2096insGTCATACACATCTG	XP_016881274.1:p.Leu699CysfsTer6
XM_017025786.1:c.2044_2045insGTCATACACATCTG	XP_016881275.1:p.Leu682CysfsTer6
XM_017025787.1:c.2044_2045insGTCATACACATCTG	XP_016881276.1:p.Leu682CysfsTer6
NM_000271.5:c.2044_2045insGTCATACACATCTG MANE Select	NP_000262.2:p.Leu682CysfsTer6