Canonical Allele Identifier: CA2290163959

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535707_23535710delinsGGGA , CM000680.2:g.23535707_23535710delinsGGGA	GRCh38
NC_000018.9:g.21115671_21115674delinsGGGA , CM000680.1:g.21115671_21115674delinsGGGA	GRCh37
NC_000018.8:g.19369669_19369672delinsGGGA	NCBI36
NG_012795.1:g.55908_55911delinsTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3246-10_3246-7delinsTCCC MANE Select	ENSP00000269228.4:n.3246-10_3246-7delinsTCCC
ENST00000269228.9:c.3246-10_3246-7delinsTCCC	ENSP00000269228.4:n.3246-10_3246-7delinsTCCC
ENST00000591051.1:c.2324-10_2324-7delinsTCCC
NM_000271.4:c.3246-10_3246-7delinsTCCC	NP_000262.2:n.3246-10_3246-7delinsTCCC
XM_005258277.1:c.3297-10_3297-7delinsTCCC	XP_005258334.1:n.3297-10_3297-7delinsTCCC
XM_005258278.3:c.3297-10_3297-7delinsTCCC	XP_005258335.1:n.3297-10_3297-7delinsTCCC
XM_005258279.1:c.3246-10_3246-7delinsTCCC	XP_005258336.1:n.3246-10_3246-7delinsTCCC
XM_006722479.2:c.3297-10_3297-7delinsTCCC	XP_006722542.1:n.3297-10_3297-7delinsTCCC
XM_011526015.1:c.2832-10_2832-7delinsTCCC	XP_011524317.1:n.2832-10_2832-7delinsTCCC
XM_005258278.5:c.3297-10_3297-7delinsTCCC	XP_005258335.1:n.3297-10_3297-7delinsTCCC
XM_005258279.2:c.3246-10_3246-7delinsTCCC	XP_005258336.1:n.3246-10_3246-7delinsTCCC
XM_006722479.3:c.3297-10_3297-7delinsTCCC	XP_006722542.1:n.3297-10_3297-7delinsTCCC
XM_017025784.1:c.3297-10_3297-7delinsTCCC	XP_016881273.1:n.3297-10_3297-7delinsTCCC
XM_017025785.1:c.3297-10_3297-7delinsTCCC	XP_016881274.1:n.3297-10_3297-7delinsTCCC
XM_017025786.1:c.3246-10_3246-7delinsTCCC	XP_016881275.1:n.3246-10_3246-7delinsTCCC
XM_017025787.1:c.3246-10_3246-7delinsTCCC	XP_016881276.1:n.3246-10_3246-7delinsTCCC
NM_000271.5:c.3246-10_3246-7delinsTCCC MANE Select	NP_000262.2:n.3246-10_3246-7delinsTCCC