Canonical Allele Identifier: CA2290180035

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568932_23568934delinsACT , CM000680.2:g.23568932_23568934delinsACT	GRCh38
NC_000018.9:g.21148896_21148898delinsACT , CM000680.1:g.21148896_21148898delinsACT	GRCh37
NC_000018.8:g.19402894_19402896delinsACT	NCBI36
NG_012795.1:g.22684_22686delinsAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.352_354delinsAGT MANE Select	ENSP00000269228.4:p.Ser118=
ENST00000269228.9:c.352_354delinsAGT	ENSP00000269228.4:p.Ser118=
ENST00000540608.5:n.266_268delinsAGT
NM_000271.4:c.352_354delinsAGT	NP_000262.2:p.Ser118=
XM_005258277.1:c.352_354delinsAGT	XP_005258334.1:p.Ser118=
XM_005258278.3:c.352_354delinsAGT	XP_005258335.1:p.Ser118=
XM_005258279.1:c.352_354delinsAGT	XP_005258336.1:p.Ser118=
XM_006722479.2:c.352_354delinsAGT	XP_006722542.1:p.Ser118=
XM_011526015.1:c.-114_-112delinsAGT	XP_011524317.1:n.-114_-112delinsAGT
XM_005258278.5:c.352_354delinsAGT	XP_005258335.1:p.Ser118=
XM_005258279.2:c.352_354delinsAGT	XP_005258336.1:p.Ser118=
XM_006722479.3:c.352_354delinsAGT	XP_006722542.1:p.Ser118=
XM_017025784.1:c.352_354delinsAGT	XP_016881273.1:p.Ser118=
XM_017025785.1:c.352_354delinsAGT	XP_016881274.1:p.Ser118=
XM_017025786.1:c.352_354delinsAGT	XP_016881275.1:p.Ser118=
XM_017025787.1:c.352_354delinsAGT	XP_016881276.1:p.Ser118=
NM_000271.5:c.352_354delinsAGT MANE Select	NP_000262.2:p.Ser118=