Canonical Allele Identifier: CA2290172685

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23555022_23555023delinsAC , CM000680.2:g.23555022_23555023delinsAC	GRCh38
NC_000018.9:g.21134986_21134987delinsAC , CM000680.1:g.21134986_21134987delinsAC	GRCh37
NC_000018.8:g.19388984_19388985delinsAC	NCBI36
NG_012795.1:g.36595_36596delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1327-39_1327-38delinsGT MANE Select	ENSP00000269228.4:n.1327-39_1327-38delinsGT
ENST00000269228.9:c.1327-39_1327-38delinsGT	ENSP00000269228.4:n.1327-39_1327-38delinsGT
ENST00000540608.5:n.1241-39_1241-38delinsGT
ENST00000591051.1:c.609-39_609-38delinsGT
NM_000271.4:c.1327-39_1327-38delinsGT	NP_000262.2:n.1327-39_1327-38delinsGT
XM_005258277.1:c.1378-39_1378-38delinsGT	XP_005258334.1:n.1378-39_1378-38delinsGT
XM_005258278.3:c.1378-39_1378-38delinsGT	XP_005258335.1:n.1378-39_1378-38delinsGT
XM_005258279.1:c.1327-39_1327-38delinsGT	XP_005258336.1:n.1327-39_1327-38delinsGT
XM_006722479.2:c.1378-39_1378-38delinsGT	XP_006722542.1:n.1378-39_1378-38delinsGT
XM_011526015.1:c.913-39_913-38delinsGT	XP_011524317.1:n.913-39_913-38delinsGT
XM_005258278.5:c.1378-39_1378-38delinsGT	XP_005258335.1:n.1378-39_1378-38delinsGT
XM_005258279.2:c.1327-39_1327-38delinsGT	XP_005258336.1:n.1327-39_1327-38delinsGT
XM_006722479.3:c.1378-39_1378-38delinsGT	XP_006722542.1:n.1378-39_1378-38delinsGT
XM_017025784.1:c.1378-39_1378-38delinsGT	XP_016881273.1:n.1378-39_1378-38delinsGT
XM_017025785.1:c.1378-39_1378-38delinsGT	XP_016881274.1:n.1378-39_1378-38delinsGT
XM_017025786.1:c.1327-39_1327-38delinsGT	XP_016881275.1:n.1327-39_1327-38delinsGT
XM_017025787.1:c.1327-39_1327-38delinsGT	XP_016881276.1:n.1327-39_1327-38delinsGT
NM_000271.5:c.1327-39_1327-38delinsGT MANE Select	NP_000262.2:n.1327-39_1327-38delinsGT