Canonical Allele Identifier: CA2290186948

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23581922_23581925delinsTGAA , CM000680.2:g.23581922_23581925delinsTGAA	GRCh38
NC_000018.9:g.21161886_21161889delinsTGAA , CM000680.1:g.21161886_21161889delinsTGAA	GRCh37
NC_000018.8:g.19415884_19415887delinsTGAA	NCBI36
NG_012795.1:g.9693_9696delinsTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.57+4362_57+4365delinsTTCA MANE Select	ENSP00000269228.4:n.57+4362_57+4365delinsTTCA
ENST00000269228.9:c.57+4362_57+4365delinsTTCA	ENSP00000269228.4:n.57+4362_57+4365delinsTTCA
ENST00000540608.5:n.201+4362_201+4365delinsTTCA
NM_000271.4:c.57+4362_57+4365delinsTTCA	NP_000262.2:n.57+4362_57+4365delinsTTCA
XM_005258277.1:c.57+4362_57+4365delinsTTCA	XP_005258334.1:n.57+4362_57+4365delinsTTCA
XM_005258278.3:c.57+4362_57+4365delinsTTCA	XP_005258335.1:n.57+4362_57+4365delinsTTCA
XM_005258279.1:c.57+4362_57+4365delinsTTCA	XP_005258336.1:n.57+4362_57+4365delinsTTCA
XM_006722479.2:c.57+4362_57+4365delinsTTCA	XP_006722542.1:n.57+4362_57+4365delinsTTCA
XM_005258278.5:c.57+4362_57+4365delinsTTCA	XP_005258335.1:n.57+4362_57+4365delinsTTCA
XM_005258279.2:c.57+4362_57+4365delinsTTCA	XP_005258336.1:n.57+4362_57+4365delinsTTCA
XM_006722479.3:c.57+4362_57+4365delinsTTCA	XP_006722542.1:n.57+4362_57+4365delinsTTCA
XM_017025784.1:c.57+4362_57+4365delinsTTCA	XP_016881273.1:n.57+4362_57+4365delinsTTCA
XM_017025785.1:c.57+4362_57+4365delinsTTCA	XP_016881274.1:n.57+4362_57+4365delinsTTCA
XM_017025786.1:c.57+4362_57+4365delinsTTCA	XP_016881275.1:n.57+4362_57+4365delinsTTCA
XM_017025787.1:c.57+4362_57+4365delinsTTCA	XP_016881276.1:n.57+4362_57+4365delinsTTCA
NM_000271.5:c.57+4362_57+4365delinsTTCA MANE Select	NP_000262.2:n.57+4362_57+4365delinsTTCA