Canonical Allele Identifier: CA2290187129

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23582313_23582315delinsTAA , CM000680.2:g.23582313_23582315delinsTAA	GRCh38
NC_000018.9:g.21162277_21162279delinsTAA , CM000680.1:g.21162277_21162279delinsTAA	GRCh37
NC_000018.8:g.19416275_19416277delinsTAA	NCBI36
NG_012795.1:g.9303_9305delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.57+3972_57+3974delinsTTA MANE Select	ENSP00000269228.4:n.57+3972_57+3974delinsTTA
ENST00000269228.9:c.57+3972_57+3974delinsTTA	ENSP00000269228.4:n.57+3972_57+3974delinsTTA
ENST00000540608.5:n.201+3972_201+3974delinsTTA
NM_000271.4:c.57+3972_57+3974delinsTTA	NP_000262.2:n.57+3972_57+3974delinsTTA
XM_005258277.1:c.57+3972_57+3974delinsTTA	XP_005258334.1:n.57+3972_57+3974delinsTTA
XM_005258278.3:c.57+3972_57+3974delinsTTA	XP_005258335.1:n.57+3972_57+3974delinsTTA
XM_005258279.1:c.57+3972_57+3974delinsTTA	XP_005258336.1:n.57+3972_57+3974delinsTTA
XM_006722479.2:c.57+3972_57+3974delinsTTA	XP_006722542.1:n.57+3972_57+3974delinsTTA
XM_005258278.5:c.57+3972_57+3974delinsTTA	XP_005258335.1:n.57+3972_57+3974delinsTTA
XM_005258279.2:c.57+3972_57+3974delinsTTA	XP_005258336.1:n.57+3972_57+3974delinsTTA
XM_006722479.3:c.57+3972_57+3974delinsTTA	XP_006722542.1:n.57+3972_57+3974delinsTTA
XM_017025784.1:c.57+3972_57+3974delinsTTA	XP_016881273.1:n.57+3972_57+3974delinsTTA
XM_017025785.1:c.57+3972_57+3974delinsTTA	XP_016881274.1:n.57+3972_57+3974delinsTTA
XM_017025786.1:c.57+3972_57+3974delinsTTA	XP_016881275.1:n.57+3972_57+3974delinsTTA
XM_017025787.1:c.57+3972_57+3974delinsTTA	XP_016881276.1:n.57+3972_57+3974delinsTTA
NM_000271.5:c.57+3972_57+3974delinsTTA MANE Select	NP_000262.2:n.57+3972_57+3974delinsTTA