Canonical Allele Identifier: CA8913013

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1155369
• ClinVar RCV Id: RCV001497683
• dbSNP Id: rs750411155
• ExAC: 18:21119967 TGAAA / T
• gnomAD v2: 18-21119967-TGAAA-T
• gnomAD v4: 18-23540003-TGAAA-T
• MyVariant Identifiers: chr18:g.21119968_21119971del (hg19) ; chr18:g.23540005_23540008del (hg38) ; chr18:g.23540004_23540007del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23540010_23540013del , CM000680.2:g.23540010_23540013del	GRCh38
NC_000018.9:g.21119974_21119977del , CM000680.1:g.21119974_21119977del	GRCh37
NC_000018.8:g.19373972_19373975del	NCBI36
NG_012795.1:g.51611_51614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2605-6_2605-3del MANE Select	ENSP00000269228.4:n.2605-6_2605-3del
ENST00000269228.9:c.2605-6_2605-3del	ENSP00000269228.4:n.2605-6_2605-3del
ENST00000540608.5:n.2519-6_2519-3del
ENST00000586718.1:n.396-6_396-3del
ENST00000591051.1:c.1683-6_1683-3del
NM_000271.4:c.2605-6_2605-3del	NP_000262.2:n.2605-6_2605-3del
XM_005258277.1:c.2656-6_2656-3del	XP_005258334.1:n.2656-6_2656-3del
XM_005258278.3:c.2656-6_2656-3del	XP_005258335.1:n.2656-6_2656-3del
XM_005258279.1:c.2605-6_2605-3del	XP_005258336.1:n.2605-6_2605-3del
XM_006722479.2:c.2656-6_2656-3del	XP_006722542.1:n.2656-6_2656-3del
XM_011526015.1:c.2191-6_2191-3del	XP_011524317.1:n.2191-6_2191-3del
XM_005258278.5:c.2656-6_2656-3del	XP_005258335.1:n.2656-6_2656-3del
XM_005258279.2:c.2605-6_2605-3del	XP_005258336.1:n.2605-6_2605-3del
XM_006722479.3:c.2656-6_2656-3del	XP_006722542.1:n.2656-6_2656-3del
XM_017025784.1:c.2656-6_2656-3del	XP_016881273.1:n.2656-6_2656-3del
XM_017025785.1:c.2656-6_2656-3del	XP_016881274.1:n.2656-6_2656-3del
XM_017025786.1:c.2605-6_2605-3del	XP_016881275.1:n.2605-6_2605-3del
XM_017025787.1:c.2605-6_2605-3del	XP_016881276.1:n.2605-6_2605-3del
NM_000271.5:c.2605-6_2605-3del MANE Select	NP_000262.2:n.2605-6_2605-3del