Canonical Allele Identifier: CA2573155243

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1430413
• ClinVar RCV Id: RCV001952439

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568898_23568899delinsTG , CM000680.2:g.23568898_23568899delinsTG	GRCh38
NC_000018.9:g.21148862_21148863delinsTG , CM000680.1:g.21148862_21148863delinsTG	GRCh37
NC_000018.8:g.19402860_19402861delinsTG	NCBI36
NG_012795.1:g.22719_22720delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.387_388delinsCA MANE Select	ENSP00000269228.4:p.Val130Ile
ENST00000269228.9:c.387_388delinsCA	ENSP00000269228.4:p.Val130Ile
ENST00000540608.5:n.301_302delinsCA
NM_000271.4:c.387_388delinsCA	NP_000262.2:p.Val130Ile
XM_005258277.1:c.387_388delinsCA	XP_005258334.1:p.Val130Ile
XM_005258278.3:c.387_388delinsCA	XP_005258335.1:p.Val130Ile
XM_005258279.1:c.387_388delinsCA	XP_005258336.1:p.Val130Ile
XM_006722479.2:c.387_388delinsCA	XP_006722542.1:p.Val130Ile
XM_011526015.1:c.-79_-78delinsCA	XP_011524317.1:n.-79_-78delinsCA
XM_005258278.5:c.387_388delinsCA	XP_005258335.1:p.Val130Ile
XM_005258279.2:c.387_388delinsCA	XP_005258336.1:p.Val130Ile
XM_006722479.3:c.387_388delinsCA	XP_006722542.1:p.Val130Ile
XM_017025784.1:c.387_388delinsCA	XP_016881273.1:p.Val130Ile
XM_017025785.1:c.387_388delinsCA	XP_016881274.1:p.Val130Ile
XM_017025786.1:c.387_388delinsCA	XP_016881275.1:p.Val130Ile
XM_017025787.1:c.387_388delinsCA	XP_016881276.1:p.Val130Ile
NM_000271.5:c.387_388delinsCA MANE Select	NP_000262.2:p.Val130Ile