Canonical Allele Identifier: CA2290165998

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1604428
• ClinVar RCV Id: RCV002157685
• dbSNP Id: rs2058690524
• gnomAD v4: 18-23540014-TAAAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23540017_23540021del , CM000680.2:g.23540017_23540021del	GRCh38
NC_000018.9:g.21119981_21119985del , CM000680.1:g.21119981_21119985del	GRCh37
NC_000018.8:g.19373979_19373983del	NCBI36
NG_012795.1:g.51599_51603del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2605-18_2605-14del MANE Select	ENSP00000269228.4:n.2605-18_2605-14del
ENST00000269228.9:c.2605-18_2605-14del	ENSP00000269228.4:n.2605-18_2605-14del
ENST00000540608.5:n.2519-18_2519-14del
ENST00000586718.1:n.396-18_396-14del
ENST00000591051.1:c.1683-18_1683-14del
NM_000271.4:c.2605-18_2605-14del	NP_000262.2:n.2605-18_2605-14del
XM_005258277.1:c.2656-18_2656-14del	XP_005258334.1:n.2656-18_2656-14del
XM_005258278.3:c.2656-18_2656-14del	XP_005258335.1:n.2656-18_2656-14del
XM_005258279.1:c.2605-18_2605-14del	XP_005258336.1:n.2605-18_2605-14del
XM_006722479.2:c.2656-18_2656-14del	XP_006722542.1:n.2656-18_2656-14del
XM_011526015.1:c.2191-18_2191-14del	XP_011524317.1:n.2191-18_2191-14del
XM_005258278.5:c.2656-18_2656-14del	XP_005258335.1:n.2656-18_2656-14del
XM_005258279.2:c.2605-18_2605-14del	XP_005258336.1:n.2605-18_2605-14del
XM_006722479.3:c.2656-18_2656-14del	XP_006722542.1:n.2656-18_2656-14del
XM_017025784.1:c.2656-18_2656-14del	XP_016881273.1:n.2656-18_2656-14del
XM_017025785.1:c.2656-18_2656-14del	XP_016881274.1:n.2656-18_2656-14del
XM_017025786.1:c.2605-18_2605-14del	XP_016881275.1:n.2605-18_2605-14del
XM_017025787.1:c.2605-18_2605-14del	XP_016881276.1:n.2605-18_2605-14del
NM_000271.5:c.2605-18_2605-14del MANE Select	NP_000262.2:n.2605-18_2605-14del