Canonical Allele Identifier: CA2290165370

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538609_23538611delinsCCT , CM000680.2:g.23538609_23538611delinsCCT	GRCh38
NC_000018.9:g.21118573_21118575delinsCCT , CM000680.1:g.21118573_21118575delinsCCT	GRCh37
NC_000018.8:g.19372571_19372573delinsCCT	NCBI36
NG_012795.1:g.53007_53009delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2972_2974delinsAGG MANE Select	ENSP00000269228.4:p.Gln991=
ENST00000269228.9:c.2972_2974delinsAGG	ENSP00000269228.4:p.Gln991=
ENST00000591051.1:c.2050_2052delinsAGG
ENST00000591075.1:n.605_607delinsAGG
ENST00000591955.1:n.315_317delinsAGG
NM_000271.4:c.2972_2974delinsAGG	NP_000262.2:p.Gln991=
XM_005258277.1:c.3023_3025delinsAGG	XP_005258334.1:p.Gln1008=
XM_005258278.3:c.3023_3025delinsAGG	XP_005258335.1:p.Gln1008=
XM_005258279.1:c.2972_2974delinsAGG	XP_005258336.1:p.Gln991=
XM_006722479.2:c.3023_3025delinsAGG	XP_006722542.1:p.Gln1008=
XM_011526015.1:c.2558_2560delinsAGG	XP_011524317.1:p.Gln853=
XM_005258278.5:c.3023_3025delinsAGG	XP_005258335.1:p.Gln1008=
XM_005258279.2:c.2972_2974delinsAGG	XP_005258336.1:p.Gln991=
XM_006722479.3:c.3023_3025delinsAGG	XP_006722542.1:p.Gln1008=
XM_017025784.1:c.3023_3025delinsAGG	XP_016881273.1:p.Gln1008=
XM_017025785.1:c.3023_3025delinsAGG	XP_016881274.1:p.Gln1008=
XM_017025786.1:c.2972_2974delinsAGG	XP_016881275.1:p.Gln991=
XM_017025787.1:c.2972_2974delinsAGG	XP_016881276.1:p.Gln991=
NM_000271.5:c.2972_2974delinsAGG MANE Select	NP_000262.2:p.Gln991=