Canonical Allele Identifier: CA628978726

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1705786
• ClinVar RCV Id: RCV002284096
• dbSNP Id: rs1364421307
• gnomAD v2: 18-21115659-AAC-A
• MyVariant Identifiers: chr18:g.21115660_21115661del (hg19) ; chr18:g.23535696_23535697del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535700_23535701del , CM000680.2:g.23535700_23535701del	GRCh38
NC_000018.9:g.21115664_21115665del , CM000680.1:g.21115664_21115665del	GRCh37
NC_000018.8:g.19369662_19369663del	NCBI36
NG_012795.1:g.55921_55922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3249_3250del
ENST00000269228.9:c.3249_3250del
ENST00000591051.1:c.2327_2328del
NM_000271.4:c.3249_3250del
XM_005258277.1:c.3300_3301del
XM_005258278.3:c.3300_3301del
XM_005258279.1:c.3249_3250del
XM_006722479.2:c.3300_3301del
XM_011526015.1:c.2835_2836del
XM_005258278.5:c.3300_3301del
XM_005258279.2:c.3249_3250del
XM_006722479.3:c.3300_3301del
XM_017025784.1:c.3300_3301del
XM_017025785.1:c.3300_3301del
XM_017025786.1:c.3249_3250del
XM_017025787.1:c.3249_3250del
NM_000271.5:c.3249_3250del