Canonical Allele Identifier: CA913190465

Gene: NPC1

Linked Data

• ClinVar Variation Id: 633341
• ClinVar RCV Id: RCV000781672

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532378_23536675del , CM000680.2:g.23532378_23536675del	GRCh38
NC_000018.9:g.21112342_21116639del , CM000680.1:g.21112342_21116639del	GRCh37
NC_000018.8:g.19366340_19370637del	NCBI36
NG_012795.1:g.54943_59240del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3243_3755-94del
ENST00000269228.9:c.3243_3755-94del
ENST00000591051.1:c.2321_2833-94del
NM_000271.4:c.3243_3755-94del
XM_005258277.1:c.3294_3805+977del
XM_005258278.3:c.3294_3806-94del
XM_005258279.1:c.3243_3754+977del
XM_006722479.2:c.3294_3805+977del
XM_011526015.1:c.2829_3340+977del
XM_005258278.5:c.3294_3806-94del
XM_005258279.2:c.3243_3754+977del
XM_006722479.3:c.3294_3805+977del
XM_017025784.1:c.3294_3805+977del
XM_017025785.1:c.3294_3805+977del
XM_017025786.1:c.3243_3754+977del
XM_017025787.1:c.3243_3754+977del
NM_000271.5:c.3243_3755-94del