Canonical Allele Identifier: CA2290168431

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23545136_23545137delinsCA , CM000680.2:g.23545136_23545137delinsCA	GRCh38
NC_000018.9:g.21125100_21125101delinsCA , CM000680.1:g.21125100_21125101delinsCA	GRCh37
NC_000018.8:g.19379098_19379099delinsCA	NCBI36
NG_012795.1:g.46481_46482delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1770_1771delinsTG MANE Select	ENSP00000269228.4:p.Phe590=
ENST00000269228.9:c.1770_1771delinsTG	ENSP00000269228.4:p.Phe590=
ENST00000540608.5:n.1684_1685delinsTG
ENST00000591051.1:c.848_849delinsTG
NM_000271.4:c.1770_1771delinsTG	NP_000262.2:p.Phe590=
XM_005258277.1:c.1821_1822delinsTG	XP_005258334.1:p.Phe607=
XM_005258278.3:c.1821_1822delinsTG	XP_005258335.1:p.Phe607=
XM_005258279.1:c.1770_1771delinsTG	XP_005258336.1:p.Phe590=
XM_006722479.2:c.1821_1822delinsTG	XP_006722542.1:p.Phe607=
XM_011526015.1:c.1356_1357delinsTG	XP_011524317.1:p.Phe452=
XM_005258278.5:c.1821_1822delinsTG	XP_005258335.1:p.Phe607=
XM_005258279.2:c.1770_1771delinsTG	XP_005258336.1:p.Phe590=
XM_006722479.3:c.1821_1822delinsTG	XP_006722542.1:p.Phe607=
XM_017025784.1:c.1821_1822delinsTG	XP_016881273.1:p.Phe607=
XM_017025785.1:c.1821_1822delinsTG	XP_016881274.1:p.Phe607=
XM_017025786.1:c.1770_1771delinsTG	XP_016881275.1:p.Phe590=
XM_017025787.1:c.1770_1771delinsTG	XP_016881276.1:p.Phe590=
NM_000271.5:c.1770_1771delinsTG MANE Select	NP_000262.2:p.Phe590=