Canonical Allele Identifier: CA2290165970

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539961_23539965delinsTACTG , CM000680.2:g.23539961_23539965delinsTACTG	GRCh38
NC_000018.9:g.21119925_21119929delinsTACTG , CM000680.1:g.21119925_21119929delinsTACTG	GRCh37
NC_000018.8:g.19373923_19373927delinsTACTG	NCBI36
NG_012795.1:g.51653_51657delinsCAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2641_2645delinsCAGTA MANE Select	ENSP00000269228.4:p.Gln881=
ENST00000269228.9:c.2641_2645delinsCAGTA	ENSP00000269228.4:p.Gln881=
ENST00000540608.5:n.2555_2559delinsCAGTA
ENST00000586718.1:n.432_436delinsCAGTA
ENST00000591051.1:c.1719_1723delinsCAGTA
NM_000271.4:c.2641_2645delinsCAGTA	NP_000262.2:p.Gln881=
XM_005258277.1:c.2692_2696delinsCAGTA	XP_005258334.1:p.Gln898=
XM_005258278.3:c.2692_2696delinsCAGTA	XP_005258335.1:p.Gln898=
XM_005258279.1:c.2641_2645delinsCAGTA	XP_005258336.1:p.Gln881=
XM_006722479.2:c.2692_2696delinsCAGTA	XP_006722542.1:p.Gln898=
XM_011526015.1:c.2227_2231delinsCAGTA	XP_011524317.1:p.Gln743=
XM_005258278.5:c.2692_2696delinsCAGTA	XP_005258335.1:p.Gln898=
XM_005258279.2:c.2641_2645delinsCAGTA	XP_005258336.1:p.Gln881=
XM_006722479.3:c.2692_2696delinsCAGTA	XP_006722542.1:p.Gln898=
XM_017025784.1:c.2692_2696delinsCAGTA	XP_016881273.1:p.Gln898=
XM_017025785.1:c.2692_2696delinsCAGTA	XP_016881274.1:p.Gln898=
XM_017025786.1:c.2641_2645delinsCAGTA	XP_016881275.1:p.Gln881=
XM_017025787.1:c.2641_2645delinsCAGTA	XP_016881276.1:p.Gln881=
NM_000271.5:c.2641_2645delinsCAGTA MANE Select	NP_000262.2:p.Gln881=