Canonical Allele Identifier: CA2290168241

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544813_23544814delinsCA , CM000680.2:g.23544813_23544814delinsCA	GRCh38
NC_000018.9:g.21124777_21124778delinsCA , CM000680.1:g.21124777_21124778delinsCA	GRCh37
NC_000018.8:g.19378775_19378776delinsCA	NCBI36
NG_012795.1:g.46804_46805delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1947+146_1947+147delinsTG MANE Select	ENSP00000269228.4:n.1947+146_1947+147delinsTG
ENST00000269228.9:c.1947+146_1947+147delinsTG	ENSP00000269228.4:n.1947+146_1947+147delinsTG
ENST00000540608.5:n.1861+146_1861+147delinsTG
ENST00000591051.1:c.1025+146_1025+147delinsTG
NM_000271.4:c.1947+146_1947+147delinsTG	NP_000262.2:n.1947+146_1947+147delinsTG
XM_005258277.1:c.1998+146_1998+147delinsTG	XP_005258334.1:n.1998+146_1998+147delinsTG
XM_005258278.3:c.1998+146_1998+147delinsTG	XP_005258335.1:n.1998+146_1998+147delinsTG
XM_005258279.1:c.1947+146_1947+147delinsTG	XP_005258336.1:n.1947+146_1947+147delinsTG
XM_006722479.2:c.1998+146_1998+147delinsTG	XP_006722542.1:n.1998+146_1998+147delinsTG
XM_011526015.1:c.1533+146_1533+147delinsTG	XP_011524317.1:n.1533+146_1533+147delinsTG
XM_005258278.5:c.1998+146_1998+147delinsTG	XP_005258335.1:n.1998+146_1998+147delinsTG
XM_005258279.2:c.1947+146_1947+147delinsTG	XP_005258336.1:n.1947+146_1947+147delinsTG
XM_006722479.3:c.1998+146_1998+147delinsTG	XP_006722542.1:n.1998+146_1998+147delinsTG
XM_017025784.1:c.1998+146_1998+147delinsTG	XP_016881273.1:n.1998+146_1998+147delinsTG
XM_017025785.1:c.1998+146_1998+147delinsTG	XP_016881274.1:n.1998+146_1998+147delinsTG
XM_017025786.1:c.1947+146_1947+147delinsTG	XP_016881275.1:n.1947+146_1947+147delinsTG
XM_017025787.1:c.1947+146_1947+147delinsTG	XP_016881276.1:n.1947+146_1947+147delinsTG
NM_000271.5:c.1947+146_1947+147delinsTG MANE Select	NP_000262.2:n.1947+146_1947+147delinsTG