Canonical Allele Identifier: CA2695227262

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568865_23568866dup , CM000680.2:g.23568865_23568866dup	GRCh38
NC_000018.9:g.21148829_21148830dup , CM000680.1:g.21148829_21148830dup	GRCh37
NC_000018.8:g.19402827_19402828dup	NCBI36
NG_012795.1:g.22754_22755dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.422_423dup MANE Select	ENSP00000269228.4:p.Lys142Ter
ENST00000269228.9:c.422_423dup	ENSP00000269228.4:p.Lys142Ter
ENST00000540608.5:n.336_337dup
NM_000271.4:c.422_423dup	NP_000262.2:p.Lys142Ter
XM_005258277.1:c.422_423dup	XP_005258334.1:p.Lys142Ter
XM_005258278.3:c.422_423dup	XP_005258335.1:p.Lys142Ter
XM_005258279.1:c.422_423dup	XP_005258336.1:p.Lys142Ter
XM_006722479.2:c.422_423dup	XP_006722542.1:p.Lys142Ter
XM_011526015.1:c.-44_-43dup	XP_011524317.1:n.-44_-43dup
XM_005258278.5:c.422_423dup	XP_005258335.1:p.Lys142Ter
XM_005258279.2:c.422_423dup	XP_005258336.1:p.Lys142Ter
XM_006722479.3:c.422_423dup	XP_006722542.1:p.Lys142Ter
XM_017025784.1:c.422_423dup	XP_016881273.1:p.Lys142Ter
XM_017025785.1:c.422_423dup	XP_016881274.1:p.Lys142Ter
XM_017025786.1:c.422_423dup	XP_016881275.1:p.Lys142Ter
XM_017025787.1:c.422_423dup	XP_016881276.1:p.Lys142Ter
NM_000271.5:c.422_423dup MANE Select	NP_000262.2:p.Lys142Ter