Canonical Allele Identifier: CA2695227329

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23545002delinsCAT , CM000680.2:g.23545002delinsCAT	GRCh38
NC_000018.9:g.21124966delinsCAT , CM000680.1:g.21124966delinsCAT	GRCh37
NC_000018.8:g.19378964delinsCAT	NCBI36
NG_012795.1:g.46616delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1905delinsATG MANE Select	ENSP00000269228.4:p.Ser636CysfsTer3
ENST00000269228.9:c.1905delinsATG	ENSP00000269228.4:p.Ser636CysfsTer3
ENST00000540608.5:n.1819delinsATG
ENST00000591051.1:c.983delinsATG
NM_000271.4:c.1905delinsATG	NP_000262.2:p.Ser636CysfsTer3
XM_005258277.1:c.1956delinsATG	XP_005258334.1:p.Ser653CysfsTer3
XM_005258278.3:c.1956delinsATG	XP_005258335.1:p.Ser653CysfsTer3
XM_005258279.1:c.1905delinsATG	XP_005258336.1:p.Ser636CysfsTer3
XM_006722479.2:c.1956delinsATG	XP_006722542.1:p.Ser653CysfsTer3
XM_011526015.1:c.1491delinsATG	XP_011524317.1:p.Ser498CysfsTer3
XM_005258278.5:c.1956delinsATG	XP_005258335.1:p.Ser653CysfsTer3
XM_005258279.2:c.1905delinsATG	XP_005258336.1:p.Ser636CysfsTer3
XM_006722479.3:c.1956delinsATG	XP_006722542.1:p.Ser653CysfsTer3
XM_017025784.1:c.1956delinsATG	XP_016881273.1:p.Ser653CysfsTer3
XM_017025785.1:c.1956delinsATG	XP_016881274.1:p.Ser653CysfsTer3
XM_017025786.1:c.1905delinsATG	XP_016881275.1:p.Ser636CysfsTer3
XM_017025787.1:c.1905delinsATG	XP_016881276.1:p.Ser636CysfsTer3
NM_000271.5:c.1905delinsATG MANE Select	NP_000262.2:p.Ser636CysfsTer3