Canonical Allele Identifier: CA2290165375

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538616_23538618delinsCCT , CM000680.2:g.23538616_23538618delinsCCT	GRCh38
NC_000018.9:g.21118580_21118582delinsCCT , CM000680.1:g.21118580_21118582delinsCCT	GRCh37
NC_000018.8:g.19372578_19372580delinsCCT	NCBI36
NG_012795.1:g.53000_53002delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2965_2967delinsAGG MANE Select	ENSP00000269228.4:p.Arg989=
ENST00000269228.9:c.2965_2967delinsAGG	ENSP00000269228.4:p.Arg989=
ENST00000591051.1:c.2043_2045delinsAGG
ENST00000591075.1:n.598_600delinsAGG
ENST00000591955.1:n.308_310delinsAGG
NM_000271.4:c.2965_2967delinsAGG	NP_000262.2:p.Arg989=
XM_005258277.1:c.3016_3018delinsAGG	XP_005258334.1:p.Arg1006=
XM_005258278.3:c.3016_3018delinsAGG	XP_005258335.1:p.Arg1006=
XM_005258279.1:c.2965_2967delinsAGG	XP_005258336.1:p.Arg989=
XM_006722479.2:c.3016_3018delinsAGG	XP_006722542.1:p.Arg1006=
XM_011526015.1:c.2551_2553delinsAGG	XP_011524317.1:p.Arg851=
XM_005258278.5:c.3016_3018delinsAGG	XP_005258335.1:p.Arg1006=
XM_005258279.2:c.2965_2967delinsAGG	XP_005258336.1:p.Arg989=
XM_006722479.3:c.3016_3018delinsAGG	XP_006722542.1:p.Arg1006=
XM_017025784.1:c.3016_3018delinsAGG	XP_016881273.1:p.Arg1006=
XM_017025785.1:c.3016_3018delinsAGG	XP_016881274.1:p.Arg1006=
XM_017025786.1:c.2965_2967delinsAGG	XP_016881275.1:p.Arg989=
XM_017025787.1:c.2965_2967delinsAGG	XP_016881276.1:p.Arg989=
NM_000271.5:c.2965_2967delinsAGG MANE Select	NP_000262.2:p.Arg989=