Canonical Allele Identifier: CA8913620

Gene: NPC1

Linked Data

• dbSNP Id: rs754327455
• ExAC: 18:21140187 CTGCTTACCTGT / C
• gnomAD v2: 18-21140187-CTGCTTACCTGT-C
• gnomAD v4: 18-23560223-CTGCTTACCTGT-C
• MyVariant Identifiers: chr18:g.21140188_21140198del (hg19) ; chr18:g.23560224_23560234del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23560224_23560234del , CM000680.2:g.23560224_23560234del	GRCh38
NC_000018.9:g.21140188_21140198del , CM000680.1:g.21140188_21140198del	GRCh37
NC_000018.8:g.19394186_19394196del	NCBI36
NG_012795.1:g.31384_31394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.878_881+7del
ENST00000269228.9:c.878_881+7del
ENST00000540608.5:n.792_795+7del
ENST00000591051.1:c.109_112+7del
NM_000271.4:c.878_881+7del
XM_005258277.1:c.878_881+7del
XM_005258278.3:c.878_881+7del
XM_005258279.1:c.878_881+7del
XM_006722479.2:c.878_881+7del
XM_011526015.1:c.413_416+7del
XM_005258278.5:c.878_881+7del
XM_005258279.2:c.878_881+7del
XM_006722479.3:c.878_881+7del
XM_017025784.1:c.878_881+7del
XM_017025785.1:c.878_881+7del
XM_017025786.1:c.878_881+7del
XM_017025787.1:c.878_881+7del
NM_000271.5:c.878_881+7del