Canonical Allele Identifier: CA2838554237

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23551728dup , CM000680.2:g.23551728dup	GRCh38
NC_000018.9:g.21131692dup , CM000680.1:g.21131692dup	GRCh37
NC_000018.8:g.19385690dup	NCBI36
NG_012795.1:g.39892dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1555dup
ENST00000269228.9:c.1555dup
ENST00000540608.5:n.1469dup
ENST00000590301.1:n.230dup
ENST00000591051.1:c.835+3032dup
NM_000271.4:c.1555dup
XM_005258277.1:c.1606dup
XM_005258278.3:c.1606dup
XM_005258279.1:c.1555dup
XM_006722479.2:c.1606dup
XM_011526015.1:c.1141dup
XM_005258278.5:c.1606dup
XM_005258279.2:c.1555dup
XM_006722479.3:c.1606dup
XM_017025784.1:c.1606dup
XM_017025785.1:c.1606dup
XM_017025786.1:c.1555dup
XM_017025787.1:c.1555dup
NM_000271.5:c.1555dup