Canonical Allele Identifier: CA2290165918

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539830_23539831delinsCG , CM000680.2:g.23539830_23539831delinsCG	GRCh38
NC_000018.9:g.21119794_21119795delinsCG , CM000680.1:g.21119794_21119795delinsCG	GRCh37
NC_000018.8:g.19373792_19373793delinsCG	NCBI36
NG_012795.1:g.51787_51788delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.2775_2776delinsCG MANE Select	ENSP00000269228.4:p.Asn925=
ENST00000269228.9:c.2775_2776delinsCG	ENSP00000269228.4:p.Asn925=
ENST00000540608.5:n.2689_2690delinsCG
ENST00000586718.1:n.566_567delinsCG
ENST00000591051.1:c.1853_1854delinsCG
ENST00000591075.1:n.68_69delinsCG
NM_000271.4:c.2775_2776delinsCG	NP_000262.2:p.Asn925=
XM_005258277.1:c.2826_2827delinsCG	XP_005258334.1:p.Asn942=
XM_005258278.3:c.2826_2827delinsCG	XP_005258335.1:p.Asn942=
XM_005258279.1:c.2775_2776delinsCG	XP_005258336.1:p.Asn925=
XM_006722479.2:c.2826_2827delinsCG	XP_006722542.1:p.Asn942=
XM_011526015.1:c.2361_2362delinsCG	XP_011524317.1:p.Asn787=
XM_005258278.5:c.2826_2827delinsCG	XP_005258335.1:p.Asn942=
XM_005258279.2:c.2775_2776delinsCG	XP_005258336.1:p.Asn925=
XM_006722479.3:c.2826_2827delinsCG	XP_006722542.1:p.Asn942=
XM_017025784.1:c.2826_2827delinsCG	XP_016881273.1:p.Asn942=
XM_017025785.1:c.2826_2827delinsCG	XP_016881274.1:p.Asn942=
XM_017025786.1:c.2775_2776delinsCG	XP_016881275.1:p.Asn925=
XM_017025787.1:c.2775_2776delinsCG	XP_016881276.1:p.Asn925=
NM_000271.5:c.2775_2776delinsCG MANE Select	NP_000262.2:p.Asn925=