Canonical Allele Identifier: CA2576470539

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539503_23539504insT , CM000680.2:g.23539503_23539504insT	GRCh38
NC_000018.9:g.21119467_21119468insT , CM000680.1:g.21119467_21119468insT	GRCh37
NC_000018.8:g.19373465_19373466insT	NCBI36
NG_012795.1:g.52114_52115insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2796-34_2796-33insA MANE Select	ENSP00000269228.4:n.2796-34_2796-33insA
ENST00000269228.9:c.2796-34_2796-33insA	ENSP00000269228.4:n.2796-34_2796-33insA
ENST00000591051.1:c.1874-34_1874-33insA
ENST00000591075.1:n.395_396insA
NM_000271.4:c.2796-34_2796-33insA	NP_000262.2:n.2796-34_2796-33insA
XM_005258277.1:c.2847-34_2847-33insA	XP_005258334.1:n.2847-34_2847-33insA
XM_005258278.3:c.2847-34_2847-33insA	XP_005258335.1:n.2847-34_2847-33insA
XM_005258279.1:c.2796-34_2796-33insA	XP_005258336.1:n.2796-34_2796-33insA
XM_006722479.2:c.2847-34_2847-33insA	XP_006722542.1:n.2847-34_2847-33insA
XM_011526015.1:c.2382-34_2382-33insA	XP_011524317.1:n.2382-34_2382-33insA
XM_005258278.5:c.2847-34_2847-33insA	XP_005258335.1:n.2847-34_2847-33insA
XM_005258279.2:c.2796-34_2796-33insA	XP_005258336.1:n.2796-34_2796-33insA
XM_006722479.3:c.2847-34_2847-33insA	XP_006722542.1:n.2847-34_2847-33insA
XM_017025784.1:c.2847-34_2847-33insA	XP_016881273.1:n.2847-34_2847-33insA
XM_017025785.1:c.2847-34_2847-33insA	XP_016881274.1:n.2847-34_2847-33insA
XM_017025786.1:c.2796-34_2796-33insA	XP_016881275.1:n.2796-34_2796-33insA
XM_017025787.1:c.2796-34_2796-33insA	XP_016881276.1:n.2796-34_2796-33insA
NM_000271.5:c.2796-34_2796-33insA MANE Select	NP_000262.2:n.2796-34_2796-33insA